TIF Magazine - issue 61

“Patients rights-Revisited” NATIONAL THALASSAEMIA DAY 2012 KEY EDucATIONAL AcTIvITY:

3rd Pan-European Conference on Haemoglobinopathies and Rare Anaemias 24-26 OcTObEr 2012

IN PARTNERSHIP WITH

A major new award programme for significant contributions in the field of thalassaemia and other haemoglobinopathies has been established by H.H. Dr. Sheikh Sultan Bin Khalifa Al Nahyan, through His Highnes’s Humanitarian & Scientific Development Foundation in partnership with the Thalassaemia International Federation (TIF).

We are proud to take the lead in establishing such a prestigious prize in an endeavour to strengthen efforts to educate the patients and the public about these genetic disorders, as well as to provide further motivation and encouragement to all those working in research and the medical/clinical field to improve the health and the quality of life of patients with thalassaemia.

The award’s aim is to bring thalassaemia and other haemoglobinopathies to the forefront of the political and health agendas globally. The award will be given every two years and include both national and international categories with monetary and non-monetary prizes. Winning individuals and/or organisations will be announced during the biennial international conferences organised by TIF, followed by an award ceremony in Abu Dhabi.

INTERNATIONAL AWARD CATERGORIES include: - Grand International Award for life-long scientific contribution in the field of Thalassaemia/Haemoglobinopathies.

- International Award for Innovative Medical Research - International Award for Clinical Center of Excellence - International Award for Thalassaemia Society of Excellence - International Scholarship for Transnational Research in Thalassaemia - International Leadership in Thalassaemia Award

Information available at: Sultan Bin Khalifa International Thalassaemia Award – www.sita.ae Thalassaemia International Federation – www.thalassaemia.org.cy; thalassaemia@cytanet.com.cy

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It gives me great pleasure to communicate with you again. The 61st issue of the magazine of our Federation presents a great opportunity for sharing our news, our thoughts and significant information on those issues that matter most for the world thalassaemia community.

It also gives us the opportunity to celebrate the many advances and achievements that are happening, day by day, through the relentless effort, unwavering commitment and sheer determination of all the members of this remarkable family of ours. So many people are working with dedication.

Every single day they persevere and carry on against all odds, always hoping and never giving up. I thank you all from the bottom of my heart.

I also thank the thalassaemia doctors and the multidisciplinary faculty of specialists who do their best for each and every one of their thalassaemia patients; the researchers, scientists and our stakeholders from the pharmaceutical industry who are dedicated to bringing about a better tomorrow for us; all the public health professionals and influencers who, in conditions of scarce resources and austerity, are vehemently defending the territory that rightfully belongs to the management of thalassaemia.

I extend my profound gratitude to all our collaborators and colleagues in the international and regional organisations and official fora for their continuous cooperation.

I particularly thank the people of TIF, the Board of Directors, the management and the staff, who have set high goals and are working collectively and painstakingly to attain them.

Above all I want to thank every person with thalassaemia and their families for their fighting spirit and courage, as well as our valued members the thalassaemia patient

associations, for always defending the rights of the patient with fervour and for being the backbone of our common struggle.

More patient/parent organisations than ever before are now active, in all continents.

In Asia, the 1st Pan-Asian Conference successfully organised by TIF in Bangkok, brought together patients, medical specialists and health professionals from 20 South East Asian countries, as well as SEARO, and culminated in a consensus declaration.

As a result, Asia has embarked on a new path and has started making collective and decisive strides which will secure better recognition and management of the disease and better care for thousands of affected persons. Building on this momentum, the Indonesian government announced new, inspired policies. Meanwhile TIF organised a south China conference in Nanning and is launching a strategic campaign in India and other Asian countries to strengthen the local organisations and build the public and private sector capacities of specific regions to manage thalassaemia and sickle cell disease.

In the Middle East, despite the difficult conditions of recent months, TIF is stepping up its efforts to implement ambitious plans, hoping to generate a local response which mirrors our ambition. We have been on several high level delegation visits to Algiers, Morocco, Tunisia, the Kingdom of Saudi Arabia, the United Arab Emirates and for the first time, Oman.

A programme of educational and community awareness activities is in place, as well as a series of important meetings with government and regional organisation officials.

In Europe and the Americas, our activities are focusing more on refining and improving the quality of TIF’s

educational output and on the effective implementation of diseasemanagement policies, particularly in northern countries and regions where the issue of thalassaemia is intertwined with issues of migrant populations and minorities. The 3rd Pan-European Conference on Haemoglobinopathies organised by TIF in Limassol, Cyprus, under the auspices of the Cyprus EU Presidency, will prove a major milestone.

Another significant accomplishment is the production of several important new publications and other material which is at the disposal of all our members, collaborators and friends.

You will find information on all these developments in this issue of our magazine. We can be very proud of the immense progress that is being made on so many fronts; and even more so because this progress is the result of cooperation on every level, of close partnerships with national thalassaemia associations, governments, medical practitioners and the pharmaceutical industry. But driving us all has been the strength, determination and courage of patients. It is the patients who inspire, guide and motivate everyone in the fight against thalassaemia.

Panos Englezos President Thalassaemia International Federation

SEPTEMBER 2012 www.thalassaemia.org.cy

TIF MAGAZINE

Foreword from TIF’s President

In the Middle East, despite the difficult conditions of recent months, TIF is stepping up its efforts to implement ambitious plans.

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Contents EDITORIAL TEAM Chief Editor: Dr Androulla Eleftheriou

n Foreword from TIF’s President . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .1

Contributors: Mikaela Panayiotou Michael Angastiniotis Phoebe Katsouris Lily Cannon

n Moving Forward: Introduction

by Dr. Androulla Eleftheriou . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3

Design Editing and Layout: Action Global Communications

n TIF Activities Around the World . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .4

Printing: Cassoulides Masterprinters

n Medical/Health Professionals Network . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .6

ISSN: 1450-3093

n Publications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .7

TIF BOARD MEMBERS

n Patients Rights Revisited / World Thalassaemia Day . . . . . . . . . . . . . . . . . . . . . . . . . . . .8

Panos Englezos President Shobha Tuli Vice President Loisos Pericleous Secretary Riyad Elbard Treasurer Her Highness Sheikha Sheikha Bint Seif Al-Nahyan George Constantinou Saeed Jafaar Al-Awadhi Loris Angelo Brunetta Anton Skafi Michael Michael Robert (Bob) Ficarra Fatemeh Hashemi Mouna Haraoui Ivan Dimitrov Ivanov Duru Malyali Ramli Mohd Yunus Christina Stephanidou Nailya Guliyeva

n Appeal to Free Palestinian Thalassaemia Patient . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .10 n Calendar of Events . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .12 n 3rd Pan-European Conference . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .13 n Pan-Asian Conference . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .14 n TIF & WHO . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .16 n Obituaries . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18 n TIF Members’ Activities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .19 n Member News and Country Advances . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .22 n Other News . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .23 n TIF speaks out for Iranian Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .24 n Policy Update: Clinical Trials . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .26 n New Focus – Emerging Thalassaemia Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . . . .28

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2. Photos should be “print quality”. This means: • The largest size possible. Please do NOT reduce the images! Send them either one by one via email, or alternatively on a CD. • High-resolution (300 dpi). Please ensure that when transferring photos from a digital camera, a high resolution is selected. (How this is done depends on the camera model.)

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Disclaimer: Reproduction of material published in TIF Magazine for educational purposes is encouraged, provided it is accompanied by the following attribution “…according to TIF magazine, the official newsletter of the Thalassaemia International Federation”.

The contents of any scientific article or presentation of any material by manufacturers does not imply the expression of any opinion on the part of Thalassaemia International Federation. The mention of specific companies or products does not imply that they are endorsed or recommended by TIF in preference to others. The contents express the opinions of the authors who alone are responsible for the views expressed. TIF does not accept any legal responsibility for their contents.

SEPTEMBER 2012 www.thalassaemia.org.cy

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Dear readers, Welcome to the new upgraded edition of TIF Magazine!

I would like to take this opportunity to go back in time to two decades ago, when I first joined the Federation as a volunteer.

I was not at all prepared for what was ahead of me, or for the way my professional life would change so drastically. For me, an incredible story of passion, determination and commitment began in 1993. Joining the global thalassaemia family and meeting patients fighting on a daily basis for their survival, the parents who struggle to support their children, and so many others who place this struggle above their personal lives and careers, has indeed changed my life.

As I look back on those days and compare them with the situation as it is today, it seems to me that I am watching a silent black and white movie that is changing to a modern high-tech production. I am privileged to have evidenced dramatic improvements in almost every area of our work: prevention; management; prognosis; diagnosis; cure; qualify of life; patients’ and health professionals’ education; recognition of patients’ rights and many others.

I feel deeply honoured to have been given the opportunity to become involved in many of the activities that led to those changes and improvements through my work at TIF. Work, which I believe has added its own small stone to the huge building block of success and advances achieved in the past two to three decades.

Certainly, through its years of existence, TIF has honoured its mission and paid deep respect to the rights of patients for better health and quality of life. The two components of TIF’s educational programme, the organisation of events at the national,

regional and international level, the preparation and distribution of the “Guidelines for the Clinical Management of Thalassaemia” and other educational material, as well as the development of collaborations and partnerships with the medical community and official health-bodies, have all been instrumental in the improvement of consistency and appropriateness of care of this disease globally. TIF has also played a leading role in the recognition of thalassaemia and other haemoglobinopathies as a priority in the WHO and EU agendas though the adoption of relevant resolutions and recommendations.

The impact of TIF’s work has been recognised by every relevant stakeholder in the field, including the World Health Organization (WHO), medical and patients’ communities, and other health organisations.

TIF continues to move forward to protect and further promote the other rights of patients for safe and effective care and active participation in the reform and/or development of issues relevant to their health and quality of life - issues such as safe drugs, safe blood, research, clinical trials and many others.

But there is much more to be done.

We need to move forward to strengthen and support monitoring in areas that have been either underrecognised or not given sufficient focus due to other priorities such as heart disease. Liver disease, pain bone disease and endocrine complications are just a few of the medical complications that need our attention – considering that perhaps less than 20% of the global patients’ population has access to appropriate iron load measurements. Placing focus in developing, improving and adopting tools for addressing these issues is certainly another priority.

We need to work towards a better

understanding of other forms of thalassaemias like Hbe/β- thalassaemia, β-thalassaemia intermedia HbH (the prevalence of which, may be even higher than that of β-thalassaemia major) in order to be able to offer more support to these patients.

We need to join hands with medical specialists of different disciplines in order to develop and improve a multidisciplinary approach to holistic care and, of course, add our support to all efforts towards the much-awaited holistic cure.

Very importantly, we need to move forward with ensuring that knowledgeable patients all over the world, fight more productively for improvements in their care and quality of life and that they become valuable and active partners in every reform or decision taken that concerns their health, at national, European and international levels.

Last but not least, we need to move forward to solidify the many networks and collaborations we have managed to develop over the years, which are patient-oriented or medical/scientific or industry-oriented. We must build on our strong infrastructure and our good relations with valuable collaborators and partners.

All of the above will be discussed and highlighted in the upcoming TIF magazine issues.

We remain committed to keeping our patient community fully informed and involved in every step of development and achievement in all areas relevant to their health and quality of life.

Enjoy reading this issue and please feel welcome to communicate and/or suggest whatever you feel we can do to make it even better, more informative and patient-oriented.

Dr Androulla Eleftheriou Executive Director

SEPTEMBER 2012 www.thalassaemia.org.cy

TIF MAGAZINE

“Moving forward”

TIF continues to move forward to protect and further promote the other rights of patients for safe and effective care.

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TIF activities around the world ALGERIA: (December 2011) As a follow-up to earlier activities in Algeria, TIF Medical Advisor, Dr Michael Angastiniotis, and Prof Demetris Loukopoulos participated in a delegation visits / workshops. During the visit, the Algerian medical community was updated on the appropriate management of patients with thalassaemia and sickle cell disease, as well as on the latest advances regarding prevention practices.

Algeria is a highly ‘affected’ country in North Africa that is underdeveloped in many aspects of healthcare, including infrastructure for genetic diseases such as haemoglobinopathies.

TIF’s presence in this country is important and challenging but it has now established links with both medical and patients’ communities, as well as with the national health authorities. Efforts are also being made to establish a patients’ Federation – pending its registration as a legal entity in this country.

ISRAEL: (January 2012) Dr Michael Angastiniotis visited Israel as a follow-up to an earlier visit that took place in October 2011 when TIF, together with Prof. Renzo Galanello, participated in the faculty of speakers for a workshop. Stemming from the October visit, closer cooperation between the medical and patients’ communities was established.

Although Israel faces neither financial nor infrastructure issues, TIF believes that certain other aspects of healthcare provided to patients with thalassaemia, including the promotion of multi-disciplinary care and psychosocial support, need to be strengthened. Patients/parents and the medical community have been invited to participate in the 3rd Pan-European Conference.

ALBANIA (January 2012) Dr Soteroulla Christou – Head of the

SEPTEMBER 2012 www.thalassaemia.org.cy

Thalassaemia centre in Nicosia Cyprus, Ministry of Health, visited Albania where she had the opportunity to ‘refresh’ TIF’s network with the medical community. More importantly, she helped in further ‘bridging the gap’ between the patients’ association and the medical community. Dr Christou met with Ministry of Health officials and discussed issues relating to national prevention, improvement of medical and multi-disciplinary care, and the issue of the MRI T2* technology for assessing the iron overload in the heart and liver - TIF’s main focus for this year for Albania. Dr Christou also met with parents and patients, and discussed problems commonly observed during periods of ‘transition of leadership’ in an organisation.

Bangladesh (March 2012) A delegation visited Dhaka and Chittagong, with Dr Paul Telfer participating on behalf of TIF. Dr. Tefler reported a positive reception from the Minister of Health, but added that this needs to be followed up promptly to ensure that momentum is not lost. The different groups are still not united and there are disagreements particularly about whether doctors should be involved in the federation of thalassaemia associations and what the purposes and functions of this group should be.

In Dr. Tefler’s view, this is probably distracting from the main objective, which is to develop a national strategy for prevention and treatment. For this, he adds, there needs to be an advisory group inclusive of all stakeholders and commitment from the Ministry of Health in terms of recognising the problem and appointing someone from within the Ministry to co-ordinate national strategy and to work with the advisory group.

Dr. Tefler plans to apply for funding for a large health partnership grant to

develop some of these thalassaemia themes, initially based around the Shishu Hospital, but outreaching to neighbouring towns and cities around Dhaka, where there is nothing. He will try to involve NGO's in the grant application, including TIF. EGYPT (April 2012) Following TIF’s participation in the EMRO regional meeting in Jordan in June 2011, where the East Mediterranean Regional ‘Task Force’, was formed, the Executive Director of TIF, Dr Eleftheriou, was invited and accepted to become a member of the ‘Task Force’. Dr Eleftheriou actively contributed in the reviewing of the EMRO Strategic Plan, the finalisation of which took place in Sharm El-Sheik, Egypt (3-4 April 2012). This document also paves the way for the drafting of the ‘Guidelines for the clinical management of haemoglobinopathies’ for the EMR countries.

TIF is also working towards improving the flow of information between patients and all other involved stakeholders, particularly the Government of Egypt. Dr Eleftheriou plans to meet with Ministry of Health officials to discuss ways by which the percentage of the Government subsidy (towards covering drug and treatment expenses), should increase and/or to find appropriate ways for patients to be reimbursed.

Bulgaria (April 2012) On behalf of TIF, Professor D. Loukopoulos attended the Multidisciplinary Workshop on Thalassaemia for health professionals, in Varna, Bulgaria. Approximately 80-90 people attended, including some physicians dedicated to thalassaemia and physicians taking care of thalassaemia in minor centres. There were also specialists in other fields who are involved in treating various

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Indonesia (June 2012) TIF staff members, Dr Michael Angastiniotis and Dr Matheos Demetriades, visited Jakarta as part of

to mediate and bridge any difficulties in communication between the various stakeholders in the country, for the benefit of the patients with thalassaemia; and more importantly to jointly decide with all stakeholders what the next steps forward for the next 3 years will be. the third TIF delegation visit to Indonesia. During their stay they attended high level meetings with the Government and National Health Authorities to evaluate the status following the implementation of the insurance scheme for thalassaemia patients. They also visited the ViceDirector for Health and Social Development of ASEAN (Association of South East Asian Nations) to discuss future collaboration in the region. A meeting with the Director of the WHO Country Representative Office was also arranged to discuss the promotion of future improvements in the quality of health services to patients. During their stay they also met with the Thalassaemia Association of Indonesia and with the medical communities and Presidents of the Indonesian Haematology and Paediatrics National Associations.

The visit, gave TIF the opportunity

Upcoming Delegation Visits • Kingdom of Saudi Arabia and Oman scheduled 13-14 September 2012 • Hong Kong scheduled for 22-23 September 2012 • China scheduled for 28-29 September 2012 • Romania scheduled for October 2012 (tbc) • Indonesia scheduled for 10-11 November 2012 • Morocco, Tunisia, Algeria scheduled in January 2013 • Russia – (tbc)

update on ongoing projects in which TIF is involved The ENERCA (European Network for Rare and Congenital Anaemias) projects This EU-DG Sanco funded project, currently in its 3rd phase, is nearing completion. Its main aim was to investigate the services for rare anaemias in Europe, including thalassaemia and sickle cell disease, and to suggest improvements through the creation of centres of ex-

cellence and the networking of treatment centres across Europe. The culmination of this 3rd phase is the publication of White Book with all the recommendations for centres of excellence and networking between centres, including legal and ethical issues as well as recommendations on laboratory and clinical services. The project included educational activities and in-

formation for the public and for professionals involved with rare anaemias through its website. Continuation of these activities through more advanced electronic communications is planned for the 4th phase of the project.

The TIF Epidemiology project TIF has created a global epidemiology database for thalassaemia and sickle contd p.6

SEPTEMBER 2012 www.thalassaemia.org.cy

TIF MAGAZINE

complications of this condition.

The meeting included a number of basic presentations including overviews of thalassaemia major (A. Kattamis), thalassaemia intermedia (D. Loukopoulos), endocrinological problems (R. Chatterjee), heart problems (A. Aessopos), liver problems (I. Kotsev) and presentations of interesting cases on which the participants had the opportunity to comment. Long discussions took place on the organization of “Centres of Thalassaemia”. Dr. Kaleva and other colleagues supported the idea of creating at least three Centres across Bulgaria (in Varna, Sofia and Plovdiv).

TIF’s participation/contribution strengthened these views. Comments from TIF’s representative regarding the issue of prevention were also well received. On the need for promotion of multidisciplinary care, the concerns regarding the absence of antiviral treatment of HCV infected patients with thalassaemia came to the forefront. TIF has already made plans to support patients in this area.

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cell disease, which includes information on prevalence and frequency as well as the services available in each country. The main objective is to suggest and advocate improvements in clinical and other services through knowledge of local conditions. The database draws its information from published data and from visits by TIF experts. Suggestions and plans of action have already been developed for various locations using this information. Articles for medical journals are also being prepared and one of these, concentrating on the situation in Europe, is in the final stages of preparation. The database is an ongoing project and is being continuously updated as new information, such as changes in migration figures and health services, is gathered.

The MRI project Much has been written in scientific journals about the benefits of early detection and assessment of iron deposition in vital organs and the intervention through timely intensification of iron chelation therapy, which can reverse even advanced heart and liver disease. Survival studies have been published that demonstrate a significant fall in cardiac-related deaths in thalassaemia through the non-invasive use of the MRI-T2*. Despite this, availability of these services is extremely limited. TIF investigation in 55 member countries, revealed that only 19 (mostly Europe) have the validated MRI T2* software and in some of these countries access is limited to few patients since the services are limited. The project aims not only to monitor the avail-

ability but also to promote availability through advocacy and through collaboration with researchers who are preparing cheaper and more affordable technologies.

Electronic patient records -EPR The importance of recording and storing patient data electronically will benefit the patients directly by not only including features such as decision support but also by facilitating research and networking.

TIF has completed a pilot project in Cyprus on the use of such an EPR and is expanding the project with new software to be made available to any thalassaemia service that may wish to use it, free of charge. This will be available towards the end of 2013.

Medical/Health Professionals Networks International Network for Endocrine Complications in Thalassaemia Achieving optimum care for every patient with haemoglobin disorders in order for them to attain not only a long life but also a good quality of life is a well-established goal for TIF. Because we are dealing with a multi-organ pathology, which is encountered in thalassaemia, a coordinated multidisciplinary team of specialists is required to achieve this goal.

Recognising this need TIF, has established different networks of collaboration between health professionals and medical specialists in the field of thalassaemia, each having a special focus, i.e. on cardiology, liver, endocrine, as well as a nurses’ network.

In this respect, TIF is pleased to inform you that, on the 6-8 September 2012 in Doha, Qatar, the International Network for Endocrine Complications in Thalassaemia (I-CET) organised the

SEPTEMBER 2012 www.thalassaemia.org.cy

first “School for Growth Disorders and Endocrine Complications in Thalassaemia”. The goal of this educational programme is to train paediatricians/ physicians and haematologists to undertake the following: 1. Acquire adequate knowledge about growth and endocrine manifestations

in patients with chronic haemolytic anaemias and improve their ability to select and interpret data originating from laboratory and radiological investigations to solve these problems.

2. Help implement an internationally acceptable set of standards on the management of the growth disorders and endocrine complications in thalassaemia.

3. Become competent and able to provide assistance to children suffering from endocrine disorders due to thalassaemia.

4. Encourage research in the field of growth disorders and endocrine complications in thalassaemia.

Young endocrinologists who wish to pursue a career in the field of haemoglobinopathies or are interested in getting involved in the multidisciplinary treatment of patients with thalassaemia, are urged to contact us for further information.

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A number of new and updated publications, all of which are significant as educational material in the context of TIF’s educational and awareness effort, will be available from October 2012.

TIF’s publications cater to the needs of readers of all ages, educational backgrounds and professional experience and provide concise up-to-date information on every aspect of thalassaemia, from prevention to clinical management.

TIF’s publications have been translated into numerous languages in order to cover the needs of the medical/scientific, patients/ parents and the general community.

NEW TIF PUBLICATIONS A short guide to addressing acute

complications in thalassaemia” – A valuable guide to health professionals for addressing acute complications in patients with thalassaemia in the emergency room.

“Prevention of Thalassaemias and Other Haemoglobin Disorders Vol. II” - The updated version of the second volume of this publication is now available. The first volume is currently being updated and is scheduled to be released next year.

“White Book on the criteria for Reference Centres and Networks for Hb Disorders and Rare Anaemias – A valuable tool for obtaining comprehensive information on the existing centers on Rare Anaemias in Europe and for presenting National Authorities the criteria to be included in their

respective national plans for establishing reference centers and networks on rare anaemias. This White Book was finalised with the contribution of TIF in the context of the ENERCA project in which TIF is a work-package leader.

“Handbook for Haemoglobinopathy Nurses” – An essential guide for nurses who are treating patients with thalassaemia and other haemoglobin disorders. This handbook is currently being edited.

“Guidelines for the Clinical Management of Thalassaemia Intermedia” – A necessary guide for health professionals on the relatively neglected field of clinical management of patients with thalassaemia intermedia.

TIF MAGAZINE

Publications

ORDER YOUR BOOKS!

free of charge All our publications are available as PDF files on our website, completely free of charge.

Hard copies and CD-ROM or DVD versions can be ordered directly from TIF and are distributed free of charge. Place your order at thalassaemia@cytanet.org.cy The translation of TIF’s educational publications into various languages continues in 2012.

All translated publications are or will become available on our website.

Check with us to get updated on the latest translations!

Please visit our website at http://www.thalassaemia.org.cy/publications.htm

SEPTEMBER 2012 www.thalassaemia.org.cy

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“Patients rights-revisited” World lassaemia Day “Knowledge is our power” was the theme of one of TIF’s largest Regional Conferences in 2008 and is a concept on which the Federation has focused considerable attention. As an international patients’ organisation, promoting information and ensuring that knowledge on the disease itself, (together with new advances, results of clinical trials, concerns by experts and upcoming developments in treatment) reaches every patient, this undoubtedly forms an essential component of our mission.

It is equally important for NGOs to focus on the education of patients on existing, new and developing upcoming regulations, directives, recommendations, resolutions, declarations, on policies within and outside the field of health that may directly or indirectly affect the patients’ health and quality of life.

Patients’ rights stem from the UN’s universal declaration in the 1940s on human rights, in the context of which a special article (Art.25) focused specifically on “The right of everyone for a standard of living adequate for the health and wellbeing of himself and of his family, including food, clothing, housing and medical care…” This constituted a critical first step in establishing the concept of patients’ rights and is reflected in the words marking the founding of the World Health Organisation (WHO) in 1948: “The enjoyment of the highest attainable standard of health is one of the fundamental rights, of every human being, without distinction …”

Despite ongoing efforts and work in securing these rights, it was not until the 1960’s and 1970’s that Patients’ Rights began to receive more serious attention. In today’s world, official health bodies, globally, are striving more than ever before to reduce health inequalities. Today’s world is focusing on the reorientation of healthcare systems towards more patient-centred

SEPTEMBER 2012 www.thalassaemia.org.cy

ones, in which patients have a role and a voice, and in which their opinion and contribution would be respected and recognised.

The establishment by WHO in 2004 of the “World Alliance for Patients Safety” was a global initiative and a key approach addressing issues such as the mobilization and empowerment of patients – “Patients for Patients Safety”.

It included the SPEAK UP campaign, most appropriately describing the responsibilities of patients towards securing and promoting their rights: - Speak- Up if you have questions or concerns: It’s your right to know.

- Pay attention to the care you are receiving.

- Educate yourself about your diagnosis and treatment.

- Ask a trusted family member or a friend to be your advocate.

- Know what medication you take and why.

- Use a healthcare provider that rigorously evaluates him/herself against safety standards.

- Participate in all decisions about your care and contribute to the development or reforming of policies that affect your health and the quality of your treatment.

It is obvious that knowledge is a prerequisite to exercising rights. The WHO, the EU and other health bodies across the world have focused considerable attention on safeguarding the basic rights of patients but it was not until 2002 that these took (in Europe at least) the form of a Charter (EU Charter) on the basis of which European Countries were encouraged to build their legislation.

This Charter described 14 basic rights in total. The right to: • Preventative medicines • Access to health services needed according to the disease without discrimination

• • • • • • • • • • • •

Information Consent Free choice Privacy and Confidentiality Respect of patients’ time Observance of quality standards Safety Innovation Avoidance of unnecessary suffering and pain Personalised treatment Complaints Compensation

Many countries in Europe have already transformed this Charter into national laws, tailored to each one’s needs and existing regulations on prevailing cultural and societal norms.

Of course, many countries outside Europe (mainly industrialised) have developed their own Charters or regulations based on and encouraged by the work of WHO and its regional offices in the different parts of the world.

However, a common devastating realization is the enormous gap existing in many of these countries between the transposition into law and the implementation and evaluation of the impact of these on patients’ quality of life and active involvement in discussions on health care services. Still more worrying is the realisation that patients in many more countries across the world including many industrialised ones, have no defined rights, recognition and respect as patients and certainly no room for active involvement or participation in policy-making.

The great concern is that patients themselves are not aware, do not know, or are incompletely informed or misinformed as to what exists or does not exist in their country.

In Europe for example, further to the 14 basic rights described above, a plethora of other policies, directives, regulations, recommendations are also

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of life and free mobility across Europe.

In other regions of the world, with the exception of North America, where rights have also received considerable attention for some time now, patients need to fight to learn what exists in their countries in term of patients’ rights, charters or legislation and fight to put those to the forefront to support their efforts for better health and quality of life.

Unfortunately, in many countries, patients have to fight from scratch for their rights, having the UN and WHO declarations as their solid basis and TIF as their closest ally.

TIF urges every patient to look and learn about his/her rights, how these are protected and respected in their country, to ensure that they are

continuously and accurately informed through their authorities, national patient associations, TIF and accredited sites on the internet.

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in place and many others are on the way or planned for the near or more distant future. All aim at safeguarding the rights of patients in many areas of health, including: those in rare diseases, participation in clinical trials, protection against counterfeit medicines, establishment of rights of patients for Cross Border Health Care, for safe and adequate blood and blood products, protection of personal data and many others, which complement the rights of patients. Patients in Europe therefore need to become more knowledgeable in order to be in a position to utilise more effectively what has been already granted to them in order to become actively and truly involved in the reforming processes in their countries that affect their healthy ageing, quality

Panos Englezos President Thalassaemia International Federation

A special webpage will soon be uploaded on TIF’s website especially for this theme.

You can also visit the WHO website which includes a list of documents on human rights: http://www.who.int/genomics/ public/patientrights/en/

World alassemia Day CYPRUS TIF PRESS CONFERENCE The Thalassaemia International Federation held a well attended press conference at the Hilton Hotel in Nicosia, Cyprus, on the 8th of May to mark international thalassaemia day. This year’s theme “Patients’ Rights revisited”, united the voices of TIF, with those of the Pancyprian Antianemia Association and the Cyprus Alliance for Rare Disorders, in bringing to the forefront significant issues and the need to be continuously vigilant.

The President of TIF, Panos, Englezos, called on government and parliament to move at a faster pace to ensure the quality and safety of blood and to implement the EU directives, particularly the European directive in cross border health care which has to be implemented by October 2013.

He pointed out that the laws and procedures should be applied speedily and always in an way that benefits the patients. Moreover, Mr. Englezos, expressed the resolve of the Thalassaemia International Federation to fight for the right of every thalassaemia patient for the care and

treatment that his or her physician consider as the best possible for their condition.

A voluntary team was formed to assert the rights of all patients with thalassaemia, chronic and rare diseases.

Support was pledged by the President of the House of Representatives of Cyprus, Mr. Yiannakis Omerou, the chairman and members of the Parliamentary Committee on health, the representatives of the Ministry of Health and Labour, the Ombudsman and the First Lady of Cyprus Mrs. Elsi Christofia, who attended the press conference.

This year’s theme “Patients’ Rights revisited”, united the voices of TIF, with those of the Pancyprian Antianemia Association and the Cyprus Alliance for Rare Disorders, in bringing to the forefront significant issues and the need to be continuously vigilant.

Next year’s theme: “Beyond B-thalassaemia major”

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Appeal to free palestinian thalassaemia patient held without charge Mohammad was initially arrested for 6 months and was given a second 6 months renewal without charge.

Thalassaemia sufferer Mohammad Suleiman Arouri is a Palestinian from the West Bank. A Social Sciences graduate of Bethlehem University, Mohammad is a married man and father to a child he has never met.

On the 5th of April 2011, Mohammad was arrested and sent to an Israeli prison under what is called an “administrative detention order”. There are no charges for keeping him imprisoned beyond a claim of “security” issues, resulting from him having a relative who is a political detainee.

Mohammad was initially arrested for 6 months and was given a second 6 months renewal without charge. On the 4th of April this year, his arrest was renewed for the third time for another 6 months, still with no reason. During his detention, his wife gave birth to their first child – a child Mohammad has yet to meet.

On the 5th of April 2012, Moham-

mad began a strike, refusing to take his required blood transfusions and medications, and thereafter a hunger strike, to voice the injustice for his arrest and ongoing imprisonment. Mohammad’s family have not been allowed to see him.

The urgent case of Mohammad Suleiman Arouri has been brought to the attention of Thalassaemia International Federation, and TIF has responded with a call for action.

This patient’s survival depends on regular transfusions and on daily drugs to remove the excess iron from his body. Even if prison authorities are providing blood transfusions, adequate health care for these patients, which aims at survival and a good quality of life requires a much more comprehensive approach. Mr Saleh is an adult patient, married, with a child. At his age, he already has organ damage since few patients, however well treated, escape it completely. His need for comprehensive, multidisciplinary care is an indisputable right. Is the prison environment conducive to such care? Failure to meet his needs will inevitably lead to poor quality of life and early death.

How much of a threat to national security is a patient with a severe congenital anaemia?

However, any detainee has rights which must be respected. Detention for long periods without trial is in itself a violation of human rights. Sub-

standard treatment of his serious medical condition is also a major violation of his rights.

The Board of Directors of the Thalassaemia International Federation (TIF), which today represents and safeguards the rights of hundreds of thousands of patients with this disease in more than 60 countries of the world: DEMANDS FROM ORGANISATIONS RELATED AND PROMOTING SUCH RIGHTS TO TAKE IMMEDIATE ACTION AND SUPPORT THIS PATIENT’S CASE. We hope that organisations dealing with human and patients’ rights strongly support this plea and protest to the government and military authorities of the State of Israel on his behalf.

Sincerely yours Panos Englezos PRESIDENT THALASSAEMIA INTERNATIONAL FEDERATION TIF Wants to Hear Your Story!

If you have a story that touches on some of the issues faced by thalassaemia patients, send it to TIF at thalassaemia-mp@cytanet.com.cy

World Blood Donor Day - 14 June 2012 theme: “Every blood donor is a hero!”

While recognizing the silent and unsung heroes who save lives every day through their blood donations, the theme also strongly encourages more people all over the world to donate blood voluntarily and regularly.

To get updated on this years activities and future events, visit: http://www.who.int/worldblooddonorday

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calendar of Events EVENT

VENUE

Algiers, Algeria • TIF Delegation Visits and Rabat, Morocco , • 1st European Patients’ Academy on Therapeutic Innovation (EUPATI) Workshop Frankfurt Germany Nicosia, Cyprus • Healthy Ageing Across the Lifecycle Conference European Molecular Genetics Quality Network (EMQN) workshop on updating the Leiden, The • 2002 EMQN Best Practice Guidelines for Haemoglobinopathy Testing Netherlands Hamad Medical Corporation Doha, Qatar • “School for Growth Disorders and Endocrine Complications in Thalassaemia” –

DATE September 1-5 September 5 September 5 - 6 September 5-6 September 6-8

Intensive course promoted by the International Endocrine Complications in Thalassaemia Network (I-CET) Singapore September 7 – 8 • Pan-ASEAN Haematology Meeting • Inception Workshop on National Planning for Rare Diseases– EUROPLAN 2012-2015 Rome, Italy September 10 - 11 Malta September 10-13 • 62nd Session of the WHO Regional Committee for Europe Jeddah , KSA September 13 • Sickle –Cell Disease Tour in Kingdom of Saudi Arabia Muscat, Omman September 14 • Sickle-Cell Disease Tour in Oman Special Conference on Therapy of Hepatitis C: Clinical Application Prague Czech September 14-16 • EASL/AASLD and Drug Development Republic Brussels, Belgium September 18 • EPPOSI Programming Day 2013 Hong Kong September 22 – 23 • 2012 EGM Iron Summit Hanoi, Viet Nam September 24- 28 • 63rd Session of WHO Regional Committee for the Western Pacific Harrogate, September 26 - 28 • British Blood Transfusion Society – Annual Conference London Unlocking the Potential of Migrants in Europe: From isolations to Multi-Level Brussels, September 27 • Integration – A Public Policy Exchange Symposium Belgium Nanning, September 28 • 1st Pan-South China Thalassaemia Workshop in Nanning, Guangxi Guangxi China Gastein, Austria October 3 – 6 • 15th European Health Forum EPHA Conference on Complementary and Alternative Medicine- Innovation and Brussels, October 9 • Added Value for European Health Care Belgium • International Workshop ‘Rare Diseases & Orphan Drug Registries’ (EPIRARE) Rome, Italy October 8 – 9 International Conference of the Egyptian Society of Haematology and Research Cairo, Egypt October 17-18 • 9th Update in Haematology Kiev, Ukraine October 19-21 • ISBT – II Ukrainian Transfusion Medicine Congress & Exhibition • 3rd Pan European Conference on Haemoglobinopathies and Rare Anaemias Limassol, Cyprus October 24-26 Paris, France October 29-30 • EURORDIS – Council of National Alliances (CNA) Workshop Paris, France October 30 - 31 • EURRDIS- Council of European rare Disease Federations Workshop Taipei, Taiwan November 3-4 • 3rd Asia Pacific Iron Academy (APIA) Conference Indonesian Thalassaemia Workshop for Health professionals, Policy makers Jakarta November 8-10 • 1standPanpatients/parents Indonesia Brussels, Belgium November 12 • Union of International Associations – Round Table 2012 Brussels, Belgium November 20 • EPPOSI Annual General Meeting New Delhi, India November 24-25 • 5th International Conference on Thalassaemia

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WHY rEGIONAL By organising local, regional and international conferences within the context of its highly successful and internationally renowned Educational Programme, TIF aims to spread knowledge on the treatment and prevention of thalassaemia according to international standards, focusing on new research and clinical trials. Part of TIF’s strategic plan for addressing health inequalities across the world, each Regional Conference takes into account the particular necessities of the region and is formulated in a way that addresses the needs of the region by bringing together patients/parents, medical professionals, policy-makers and other interested parties for the purpose of exchanging methods of best practice in patient care, prevention and patient empowerment whilst providing opportunities to network and share experiences.

Registration & Accommodation forms on our website

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Pan Asian conference

The 1st Pan-Asian Conference on Haemoglobinopathies took place on 8-10 February 2012, at the Royal Orchid Sheraton Hotel and Towers in Bangkok, Thailand.

The participation exceeded our expectations with numbers reaching more than 350 participants. The programme of the meeting was formulated in a way that the overall event was an ‘impact-making regional summit’ of all relevant stakeholders. Ministries of Health Public Officials, WHO Regional Conclusions and recommendations In Asia and the Western Pacific regions there are certain needs and weaknesses common to almost every country, albeit to a variable level. Those that have been identified as being the most common, include the following:

Pre-marital screening legislation has been effected in several countries, but there are remaining enforcement weaknesses

National prevention programmes These need to be urgently developed and/or strengthened. Some countries in these regions have been successful in developing and implementing effective prevention with outstanding results, while others have identified some weaknesses and are in the process of rectifying and refining their control programmes. These countries could constitute a model for others to follow. Finally, there are also other countries in these regions that would require support for establishing and implementing their national control programmes. The development of services for effective prevention necessitates the active political commitment and involvement by the government for securing the quality and sustainability of services. Reliable,

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and country office representatives, key medical specialists, patients’ leaders participated, from 19 countries.

In addition, in the course of the patients/ parents ‘get-together’ meeting, patients had the opportunity to get to know each other, air their grievances, the difficulties they face, and the things they could do for each other in order to move forward; more importantly many expectations for TIF’s support were raised. up-to-date epidemiological data is also still needed in some countries of the region in order to support better planning, as well as consensus on the methods and technologies to be implemented to address social, cultural and religious factors in achieving effective prevention.

Pre-marital screening legislation has been effected in several countries, but there are remaining weaknesses in the enforcement of this legislation.

Countries in the region should ‘tailor’ prevention programmes in accordance to their specific needs, cultural factors, existing health infrastructures and available resources.

Pre-marital screening programmes should be accompanied by appropriate genetic counselling to enable couples to identify and follow the most suitable reproductive option, as well as education of the public regarding the health status of carrier individuals, in order to avoid stigmatisation and discrimination.

Prenatal diagnosis in some countries carries the dilemma of termination of pregnancy, which may only be allowed

As an outcome of he meeting the participants signed a declaration form with the “consensus on moving forward to address this major medico-socio-economic problem and support in promoting services, in close collaboration with National Health Authorities, to provide specific and timely diagnosis and management to our patients with Hb disorders, in order to improve their health and quality of life.”

The outcome of the meeting and the Conference report, which included an evaluation of the objectives of this Conference, has been presented to the national health authorities of each participating country.

A proceedings and an abstract book has been compiled and are available through TIF upon request. under limited circumstances.

PGD technology can therefore offer a viable solution to circumvent such ethical problems. Expertise in the area of PGD exists in countries of the region, but co-ordination and assignment of areas of responsibility are lacking, pending political commitment.

Reference centres / centres of excellence There is a lack of designated reference centres, or centres of excellence in many countries of the region, which directly affects the access of patients to quality clinical management. Reference laboratories are also needed for the implementation of effective prevention programmes. Only a number of countries have focused efforts and resources on this, like Singapore, Thailand, Taiwan-China, Hong KongChina and Australia. In the majority of the rest, there are hospital or university departments (India, Vietnam) or centres (Sri Lanka, Bangladesh, etc) that treat and provide basic treatment to a satisfactory level with a need to focus

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CONFERENCE DECLARATION “We, the participants of the 1st PanAsian Conference on Haemoglobinopathies, 8-10 February 2012, Bangkok, Thailand, have consensus on moving forward to address this major medico-socio-economic problem and support in promoting services, in close collaboration with National Health Authorities, to provide specific and timely diagnosis and management to our patients with Hb disorders, in order to improve their health and quality of life.

We are interested to form national, regional and international networks to pool knowledge, expertise and resources to better support the implementation

Recommendations and next steps The goal and focus of activities should be to establish optimal treatment for patients, as well as effective prevention with minimal affected annual births, across the region.

1. This regional conference should be repeated every 2-3 years.

2. National workshops for both medical professional and association meetings running in parallel are invaluable. These workshops would improve knowledge and awareness, but more importantly would strengthen the collaboration between the various stakeholders.

Another advantage is that service deficiencies in both case management and prevention would be brought to the surface and might lead to the adoption of corrective actions by policy adjustments and action plans, from policymakers.

TIF, depending on availability of funds, will support : a) A specific number of medical/scientific specialists from each country (according to the needs) to participate in educational workshops organised by TIF.

b) The organisation of workshops/ camps for patients associations to empower patients, to educate them of their rights and interests, to inform them of the ways to collaborate effectively and productively with health authorities and how to strengthen the psychosocial support of the patients, would be the primary goal of these activities.

3. A Regional Network as described above, to build close and effective communication between the associations and the TIF, as well as between associations and medical specialists. This will help to maintain awareness and action, and give TIF early warning on important issues that require interventions.

4. Collaboration initiatives and maintenance of close communications between TIF, the Ministries of Health, national blood banks, national thalassaemia associations, and WHO in each country to: a) Encourage development of prevention and treatment protocols b) Support programmes for training and education of scientists and health professionals c) Establish whether blood needs are met and adequate standards applied d) Promote the establishment of reference centres.

of such strategies. It is our objective to observe significant progress in five (5) years’ time, monitored in two years’ time in the context of the 2nd PanAsian Conference on haemoglobinopathies that will take place in Asia.

We will be aiming to achieve: a) 25% increase in the development of prevention programmes; b) 40% increase in patients receiving appropriate treatment – blood transfusion and iron chelation according to TIF’s guidelines and upcoming guidelines on the management of Thalassaemia Intermedia, HbE/β-thalassaemia and SCD’ c) 60% increase in Patients’Organisations in the region;

d) 40% increase in Patients’ registries, and; e) 25% increase of Reference centres across the region and networks between the medical specialists of and within countries.”

These activities should be linked to WHO’s 2008-2013 Action plan for the global strategy for the prevention and control of non-communicable diseases (www.who.int/nmh/publications/97892 41597418/en/index.html) – Non-communicable diseases prevention and Health Promotion V.2 (www.who.int/hpr/ gs.strategy.country.shtml) and to the two WHO Resolutions on Thalassaemia and Sickle Cell Anaemia (EB118_R1 and WHA59_R20, respectively).

importantly to support governments and Regional WHO’s efforts towards the creation of recommendations and guidelines for Hb disorders.

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on improving the quality and range of available services. Networks of medical specialists and patients’ associations.

There is a general absence of effective networks among patients’ associations and between patients’ associations and doctors. To encourage such networking and collaboration, TIF has embarked on an initiative to establish a Pan-Asian Network of patients and medical specialists in the field of haemoglobin disorders. Such regional networks were successfully launched in Europe and the Middle East, recently.

The aims of such a network would be to improve awareness among medical professionals about haemoglobin disorders; to gain a more accurate picture of the available services and any existing problems; to gather up-to-date epidemiological information, including numbers and locations of patients in the region; to raise awareness among patients and parents of the existence of an international support network and peer groups in other countries; and to create networks of collaboration and close contacts between patients and medical professionals within and between countries.

Through the collection of data a solid evidence base will be built, and this will help focus TIF’s activities on the special needs of the region, but more

National workshops for both medical professional and association meetings running in parallel are invaluable.

These workshops would improve knowledge and awareness, but more importantly would strengthen the collaboration between the various stakeholders.

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TIF & WHO

The six days of discussions involved nearly 3000 delegates, including health ministers, public health officials from amongst the 194 WHO Member States

TIF participated in the 65th WHO World Health Assembly held in Geneva on 21 – 26 May 2012 with a three-minute statement on the Prevention and Control of Noncommunicable Diseases.

Dr Victor Boulyjenkov, former Coordinator of the Human Genetics Division at the WHO Headquarters represented TIF at the this important meeting, which focused primarily on the development of a global strategy and action plan regarding the prevention and control of noncommunicable diseases.

The six days of discussions involved nearly 3000 delegates, including health ministers, public health officials from amongst the 194 WHO Member States, as well as representatives from civil society, non-governmental organisations and other stakeholders.

TIF’s three-minute statement, which also can also be found on our website (www.thalassaemia.org.cy) focused on our commitment to improve the quality of life and life expectancy of patients with noncommunicable and inherited haemo-

globinopathies, such as thalassaemia and sickle cell disease.

Furthermore, TIF will be represented by Dr Victor Bolujenkov, in the 62nd session of the Europe Regional Committee, to be held in Malta on September 10 – 13, 2012, where the WHO European Action Plan for strengthening public health capacity and services will be discussed. TIF will participate with a three-minute statement supporting the initiatives taken by WHO/EURO in this field. Please read the threeminute statement in the box.

Request to the Chairman of the WHA65 (21-26 May, 2012) Agenda item 13.1 “Prevention and control of NCDs” Statement of TIF (Thalassaemia International Federation)

by Dr Victor Boulyjenkov Mr Chairperson, Ladies and Gentlemen Thalassaemia International Federation (TIF) is a non-profit organization, comprised of one hundred and four member associations from 60 countries, in official relations with the WHO since 1996. TIF is committed to improving the quality of life and life expectancy for patients with inherited haemoglobinopathies, such as thalassaemia and sickle cell disease, which fall within the scope of non-communicable diseases (NCDs). Our mission is to promote activities of existing national patients/parents’ organizations as well as creating ones, and to support national health authorities in their efforts to develop effective national control programmes on the prevention and control of haemoglobin disorders.

The global public health burden of haemoglobin disorders continues to increase and available updated epidemiological data clearly demonstrate that the magnitude of the problem is grossly underestimated, worldwide. In this context, TIF greatly appreciated several WHO resolutions (WHA59.20, EB117.R3, EB118_R1), adopted by the WHA and EBs on sickle cell anaemia and on thalassaemia in 2006. These Resolutions facilitate the work of TIF and support our activities at country level. However, we would be pleased to see a following WHO progress report, as a result of these resolutions, including member states activities on developing national programmes on the control of haemoglobin disorders.

You are aware that haemoglobin disorders belong to the genetic diseases family and as such require specific strategies and interventions based on advanced research. To this end, TIF deeply appreciates the ongoing WHO initiatives outlined at the document A65/8 and fully supports the proposed global strategy and the action plan for the prevention and control of NCDs, especially in the research area.

TIF would be pleased to further provide WHO with relevant information on the progress achieved on the prevention and control of haemoglobin disorders worldwide, as a part of the NCD’s global health burden.

Thank you.

Mr Chairperson, Ladies and Gentlemen TIF (Thalassaemia International Federation) is a non-profit organization dedicated to improving quality of life and life expectancy for patients with inherited haemoglobin disorders which fall within the scope of non-communicable diseases. TIF is comprised now of 108 member associations from 55 countries cooperating, in official relations with WHO since 1996. contd p.18

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The global burden of haemoglobin disorders including thalassaemia and sickle cell disease continues to increase.

Current epidemiological data demonstrate a gross underestimation of the magnitude of the problem taking into account an increasing migration of populations worldwide.

In this context, TIF was delighted to accept several WHO resolutions on sickle cell anaemia (WHA59.R20) and thalassaemia (EB118.R1) requesting member states to develop and implement comprehensive national programmes for the prevention and management of these diseases.

Following these resolutions, TIF has taken steps towards raising awareness across Europe for haemoglobin disorders through the organisation of Pan-European conferences on this topic since 2007, formulating European policies on ‘Rare Disease and Anaemias’. The 3rd Pan-European conference with support of the WHO/EURO will be held in Cyprus this October.

In conclusion, TIF, therefore, deeply appreciates WHO/EURO initiatives for strengthening public health capacities that fall in line with TIF’s activities and fully supports the presented document, especially in the area of disease prevention.

Thank you.

ObITuArIES Professor Antonio Cao Prof Antonio Cao, paediatrician, geneticist and founder of the Ospedale Regionale Microcitemie in Calgiari, Sardinia, passed away on the 24th of June 2012 at the age of 83. One of the pioneers of modern understanding and management of thalassaemia, his contribution has been immense both on the academic and practical aspects of haemoglobin disorders. In the early 1970s he initiated the thalassaemia control programme in Sardinia, which included screening and prenatal diagnosis becoming one of the first centres to advocate for the prevention of thalassaemia. A member of the WHO, he worked on hereditary anaemias within the WHO Human Genetics Programme, through which many guidelines on the control of haemoglobin disorders were developed. He became full professor of paediatrics and chaired the Paediatric Department of the University of Calgiari since 1974. His work has been recognised internationally and he received several international and Italian awards.

The thalassaemia community owes much to this tireless pioneer and researcher. In recognition of his lifetime contribution to the alteration of the natural history of thalassaemia from a fatal disease to one that can be both prevented and treated, Professor Cao was to be the keynote speaker at this year’s TIF Pan-European Conference in Cyprus.

TIF, the Board of Directors and all who knew him as a friend over so many years will miss him and will never forget.

He is part of our history.

Gargi Pahuja On the 21st of July, Gargi Pahuja passed away at the age of 37 and we lost an irreplaceable loving human being. For a number of years Gargi served on the board of Cooley’s Anaemia (CAF) Foundation, and on the board of the Thalassaemia International Federation (TIF). She was also a president of the Thalassaemia Action Group (TAG), and a Patients’ Services Director for CAF. In 1996 Gargi graduated from the University of Richmond as a Virginia Presidential Scholar with a degree in biology and women’s studies. She earned a master’s degree in public health in infectious diseases from the University of California at Berkley in 1998, and in 2004 she earned a degree in Health Law from Setom Hall University Law School in New Jersey.

Gargi’s battle for life was against all odds, but she spent it by waging her own personal crusade to give hope to other thalassaemia patients. Her empowering and inspiring voice echoed not only in international patients’ conferences but also in governmental committees and official fora.

The Board of Directors, members and staff of TIF, together with our global thalassaemia family mourn the lost of a gifted and very special woman and express their sincerest condolences to her family.

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TIF MAGAZINE

TIF Members’ Activities WORLD THALASSAEMIA DAY ARGENTINA To mark International Thalassaemia Day on 8th May, ATA organised a talk on Patients’ Rights in the lobby of the Ramos Mejia Hospital in Buenos Aires.

Speaking at the event was Dr Maria

on Saturday May 26 at the Fix Live Function Centre in Rockdale. Thalassaemia Australia also organised an information table at Monash Medical Centre on the 8 May.

Cristina Cortesi, a lawyer specializing in Medical Law and Legal Regulation of Medicines, the Vice President of the Health Law Committee of the Bar Association of Buenos Aires, a member of the Iberoamerican Society of Medical Law (SIDEME), and Legal Adviser in the Legal Affairs division of the Superintendent of Health Services.

A wide audience actively participated in the event, with patients’ rights in Argentina explained by Dr. Cortesi, who also distributed copies of the relevant law to attendees.

BANGLADESH International Thalassaemia Day was observed in Bangladesh on 8th May by the Bangladesh Thalassaemia Samity (Society). The Medical Students’ social welfare organizations of all 12 Medical Colleges in Bangladesh were involved as partners in observing the day, which was marked with an event at the National Press Club, presided over by Omer Golam Rabbany, President of the Bangladesh Thalassaemia Samity. Professor Dr M.R Khan also graced the occasion as the Chief Guest. Eminent Specialists and Paediatricians, Haematologists and other medical practitioners participated in discussion, while a multimedia presentation was made on the disease, its prevention and treatment.

Speakers urged the Government to create facilities for treating thalassaemia patients in every Government Hospital throughout the country, with special emphasis put on screening of blood before transfusion.

AUSTRALIA As part of International Thalassaemia Day/Week, Thalassaemia Australia was out and about during the month of May, starting with a children/family function on the 6th of May at Kidspace in Cheltenham. This was a great opportunity for families to get together and share experiences, whilst enjoying a fun day out.

The Thalassaemia Society of NSW had an information stand at the Prince of Wales Hospital, Sydney on 6th of May, arranged an event to help raise awareness and increase understanding about thalassaemia amongst the local community at Sydney’s Vivo Cafe, and also invited the public to “FIX Thalassaemia”

INDIA On the eve of Thalassaemia International Day, strategies were discussed that would make India a thalassaemia free country, something that will not be possible without active government involvement. To mark Thalassaemia International Day a varied programme was arranged by Foundation Against Thalassaemia at Central Park Sector 12 Faridabad.

Foundation Against Thalassaemia has urged the private as well as the government sector to speed up efforts to promote blood screening processes to eradicate Thalassaemia as more than 3.5% of the country’s population are thalassaemia carriers and round 10,000

Next year’s theme: “Beyond B-thalassaemia major”

babies are born with Thalassaemia major every year.

Speaking on the occasion of International Thalassaemia Day, General Secretary of F.A.T. Ravinder Dudeja said all out efforts should be made to create awareness among the public regarding this deadly disease.

He explained that taking the Thalassaemia Carrier Test [HbA2] before marriage could play a vital role in preventing thalassaemia.

Thalassemics India celebrated International Thalassemia Day at Sri Sathya Sai International Centre, Lodhi Road, New Delhi with a cultural programme that attracted more than 700 people. Shri. Anshu Prakash, Principal Secretary, Department of Health and Family Welfare, Government of NCT of Delhi attended, along with Guest of Honour, the former India cricketer Mr. Kapil Dev. The event consisted of song and dance performances, speeches, and introductions to various adult thalassaemics who have excelled in different fields.

IRAN The Iranian Thalassemia Society marked International Thalassaemia Day at the conference hall of the Iranian contd p.20

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TIF Members’ Activities

Deputy of Labour and Social Welfare in Tehran. Around 1000 patients and their families, specialists, health professionals, nurses and pharmaceutical agents were invited to the event, which was sponsored by various pharmaceutical and medical equipment companies.

The President and Executive Manager of the Iranian Thalassemia Society, Dr. Arasteh and Mr. Mashhadi, welcomed all the attendees, ahead of short presentations on the importance of the occasion, healthcare issues and the conditions for thalassaemic patients in Iran during the recent years.

With celebrations lasting more than 5 hours, the event included live traditional and pop music, theatrical and comedy performances, and more.

IRAQ Iraq’s Nineveh Thalassaemia Society (NTS) celebrated this year’s International Thalassaemia Day with patients and staff at the NTS centre, where patients and their families were also advised on how to cope with the condition as well as their rights to treatment, education and work. A gallery of paintings was also displayed, much to the enjoyment of all who attended.

LEBANON Lebanon’s Thalassaemics came together on the 8th May to not only mark International Thalassaemia Day, but also to celebrate that, for the first time, the Chronic Care Center did not register a single new case of Thalassemia during the first 5 months of the year.

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The national prevention programme of the Chronic Care Center and the implementation of the pre-marital law in Lebanon contributed to a 70% reduction in the number of new cases in the last 18 years, which decreased to less than 6 cases per year in a country where abortion is illegal.

It is hoped that a sustainable “zero new case” status will be achieved, thus enabling the Center to eradicate the disease and use all its resources to optimize the treatment of thalassaemics and contribute to ongoing improvements in their quality of life.

PAKISTAN International Thalassaemia Day was observed by the Thalassaemia Society of Pakistan (TSP) with great enthusiasm.

The day started with an awareness walk from Punjab Assembly to Fatima Jinnah Medical College Lahore (FJMC). A large number of Thalassaemia patients and their families participated in this event.

The walk was led by Ms. Zakia Shahnawaz, advisor to Chief Minister Punjab, Professor Yasmin Raashid, Secretary General of the TSP, and Andleeb Abbas, the Vice President of the TSP. Participants of the walk carried cards and banners about Thalassaemia.

Subsequently, a colourful programme was organized at the auditorium of Fatima Jinnah Medical College (FJMC). The function started with a welcome address from Professor Jovaria Mannan, who warned that if the government fails to implement a successful prevention programme, an enormous burden on the country’s economy can be expected in the coming years Speeches were followed by a programme of songs, skits, dramas, dances, with the ceremony brought to a close by an address from the chief guest, Mrs Zakia Shahnawaz.

Pakistan Thalassaemia Welfare Society celebrations for International Thalassaemia Day on 8th May were even

more special this year as 2012 marks 20 years since the Society’s founding. To mark the occasion, the 8th National Conference and Workshop (organized by the Pakistan Thalassaemia Federation every year) had its activities spread over a full week to deliver increased public awareness through the active involvement of print and electronic media. All other societies working for Thalassaemia in the Rawalpindi/ Islamabad area joined in to make the occasion a great success.

To mark Thalassaemia International Day 2012, a major function was organized in the auditorium of the Pakistan National Council of Arts Islamabad. The event was well attended by thalassaemics and their families, along with the elite of the medical profession, social workers, officials and others.

PALESTINE Every year, the Thalassaemia Patients’ Friends Society of Palestine (TPFS) marks International Thalassaemia Day with activities running through the whole month. This year, the central celebration took place on Saturday 5th May in the district of Ramallah and al-Bireh, centre of West Bank.

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days preceding International Thalassaemia Day, the Emirates Thalassemia Society organised the 1st Emirates Thalassemia Forum for Arab & Gulf Region at the prestigious Dubai World Trade Center.

Her Highness Sheikha Sheikha Bint Seif Al Nahyan officially announced the opening of the 2-day forum and joined patients for the presentations till the afternoon. This

SUDAN

A meeting to mark International Thalassaemia Day in May was well attended by patients, parents, doctors, the media and all those concerned with the treatment of thalassaemia patients. The theme of this meeting was the availability of drugs, mainly iron chelating agents, and ongoing efforts to ensure that those who are suffering get access to the treatment they need.

UAE On the 6th & 7th May 2012, the two

was a social forum where patients, doctors, nurses & social activists were invited from the Arab & Gulf Region to unite under one roof and share issues and experiences related to the social aspects of Thalassemia.

On 8th of May, International Thalassemia Day was marked with happiness and a fun time for Thalassemia patients from UAE and elsewhere. Free games, musical performances, gifts and an open lunch buffet were the highlights of this day. Patients and their families enjoyed every second of the day, with an arts and crafts workshop, henna designing, face painting and much more provided for younger attendees, courtesy of Hamleys of London. contd p.22

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The festivities began with the signing of a Memorandum of Understanding between Paltel Communications Group and the Society, which entails launching a six month campaign on raising community awareness through training and media activities about thalassaemia.

The signing was followed by a solidarity march for Mohammed Suleiman, a thalassaemia patient imprisoned by the Israeli army without charge for more than a year. The march continued to the hall where the official ceremony took place.

The opening ceremony conducted under the auspice of the Governor, was attended by 400 individuals from around the West Bank; patients and their families, volunteers, TPFS partner health and youth organisations, international and local organisations including UNRWA, along with the Governor, the Paltel group representative, and the TPFS president.

The programme included key note speakers who emphasized the necessity to collaborate more to reach a Palestine free of new thalassaemia births, and to continue building on the success achieved till now. Calls to continue pre-marriage tests were made. The ceremony included cultural activities by students and patients, followed by recognition of special volunteers who supported TPFS efforts over the the past year. The ceremony was followed by recreational activities for patients and their families at the district park.

SOUTH AFRICA In celebration of International Thalassaemia Day, a conference was held in Umhlanga organised by the South African Thalassaemia Association (SATA). SATA Chairman Sunil Soni and Doctor Yasmin Goga urged the public to donate blood at South Africa National Blood Service facilities and to learn more about thalassaemia. Said Goga: "As doctors, we can only do so much. If there's no blood, there's nothing that we can do. Get onto social networks and ask your friends and family for support, to donate their blood."

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TIF Members’ Activities UK NEBATA - the North of England Bone Marrow and Thalassaemia Association - is an organisation run by volunteers and funded by donations. It provides support and information to people affected by thalassaemia through a network of medical experts. Operating from Manchester, NEBATA provides support to families across England and Scotland, reaching as far as Bristol, Glasgow and Leeds.

International Thalassaemia Day was celebrated by NEBATA in a successful and colourful event, with bal-

MEMBER NEWS AND COUNTRY ADVANCES INDONESIA TIF Welcomes JAMKESMAS Initiative The Thalassaemia International Federation (TIF) has welcomed the exemplary initiative by the Government of Indonesia with its JAMKESMAS national health insurance plan. TIF is grateful to the Government of Indonesia for its foresight and its genuine interest in ameliorating the pain and suffering of patients with chronic diseases.

The implementation of the JAMKESMAS policy confirms that the Government of Indonesian has recognised thalassaemia, with its known medical-socio-economic repercussions, as a major public health problem, and has had the vision to address it.

IRAN Iran Holds First Thalassaemia Winter School Iran’s first 3-day thalassaemia winter school was held between 1-3 March 2012 at Ramsar’s Grand Hotel. This seminar was held for about 200 adult thalassaemia patients from various provinces of Iran. Organised by the Iranian Thalassaemia Society, Dr Majid Arasteh and Mr. Mohammadreza Mashhadi were the scientific and executive

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loons, leaflets and a TV camera crew.

The day was organised around the setting up of an information stall in the in the main atrium of the Royal Manchester Children’s hospital, where care professionals and members of NEBATA joined together to bring the festivities

presidents of the event. Various topics were discussed and interactive panels were organised, while social events were also organised for representatives of all thalassaemia associations in Iran.

IRAQ Ninava Thalassemia Society Holds Successful Conference Ninava Thalassemia Society in Mosul, in collaboration with the provincial health department of Ninavah district, held its 2nd Conference of Thalassaemia Prevention in Mosul city’s Oprawi Hotel. The event marked a successful programme of thalassaemia prevention in 2011.

LAOS Laos Children's Hospital Opens Thalassaemia Clinic On 4th May, the Vientiane Lao PDR Children's hospital opened its new Thalassaemia clinic. The clinic is supporting patients with transfusion and iron chelation, through a budget currently sponsored by KOICA which will be succeeded by a NGO named HHA. It is the first dedicated clinic for the treatment of thalassaemia in Laos. A patients association is currently being formed.

LEBANON Extending Thalassaemia coverage for refugee children at Lebanon’s Chronic

to the people of Manchester. The very busy atrium was an excellent venue and backdrop for a television interview given by NEBATA chairperson, Dr. Andrew Will, which aired on the BBC regional news show North West Tonight. The programme highlighted the issues encountered by those with Thalassaemia and raised awareness amongst the greater public. NEBATA’s message to “pay attention, discover more and understand the condition” was spread far and wide, and the news report also appeared as a feature on the BBC’s national Breakfast Show.

Care Centre In an agreement signed with Lebanon’s Chronic Care Centre, the United Nations Relief and Works Agency (UNRWA) is to cover the health care costs of Palestine refugee children receiving treatment for Thalassaemia.

Refugee children up to 11 years of age will be fully covered at the Centre through UNRWA’s Catastrophic Ailment Relief (CARE) programme, in addition to 70 per cent coverage of chronic medications at discounted rates.

Mouna Haroui, president of the Centre, welcomed the announcement: “Through this co-operative effort, patients will be provided with proper diagnosis and the appropriate specialised care. Along with the medication supplied by UNRWA, improved access to comprehensive treatment will allow Thalassaemics to cope better with their chronic condition and to avoid long-term complications. We also plan to work with UNRWA on prevention efforts, as we have demonstrated success at decreasing new births associated with the condition.”

Through a joint health awareness campaign, UNRWA and the Chronic Care Centre will conduct “train the trainer” sessions for staff of the refugee agency, helping to disseminate information about Thalassaemia among its

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PAKISTAN Karachi’s Kashif Iqbal Thalassamia Care Centre Shows Impressive Progress Karachi’s Kashif Iqbal Thalassaemia Care

Centre was established in 1996 by Mr Muhammad Iqbal in memory of his son, Kashif, a Thalassaemia Major sufferer who passed away at the age of just 16 years.

The achievements of this centre have been many. It established its own laboratory, blood bank and transfusion centre in 2007 and now has 350 patients registered for blood transfusion and more than 650 patients for iron chelation therapy. The KITCC is the first thalassaemia centre to have invented its own low-cost Infusion Pump which is now in use across Pak-

OTHER NEWS Cure2Children Foundation Offers International Assistance Cure2Children (C2C) is a non-profit, non political and secular organization providing support to developing countries' health professionals caring for children with cancer and blood disorders.

C2C provides free support to health professionals, families, volunteers and institutions in developing countries caring for children with leukaemia, cancer and other severe diseases in compliance with shared principles and vision. The services offered are pertinent to local realities and social values.

The ultimate goal is to contribute to the development of worldwide, evidencebased diagnostic and management standards that may improve the cure of all children with cancer.

C2C was created by paediatric haematologist-oncologist, Dr. Lawrence Faulkner, whose experience drove him to promote a project aiming at bringing a cure to children with cancer, leukaemia and other common severe blood disorders such as thalassaemia and sickle cell disease in underprivileged areas.

For more information, visit www.cure2children.org

INDIA Hunger Strike To Protest Denial Of Treatment Following the denial of treatment to thalassaemia patients over the age of 18 years by the Maternal and Child Health (IMCH) Medical College Hospital at Kozhikkode, the Blood Patients Protection Council (BPPC) observed a 4-day continuous hunger strike in front of the admission desk of the IMCH hospital.

The hunger strike started on the 2nd May and ended in 5th May. Previously the IMCH had agreed to continue the treatment of blood patients irrespective of age, until the establishment of a fully-fledged haematology centre at the Medical College Hospital for the treatment of various

istan for iron chelation. As well as starting free family screenings for thalassaemia patients, KITCC has also made ultrasound available, and arranged for free screenings at cities, universities and factories across Pakistan. Along with providing assistance to flood-hit areas, KITCC has also arranged recreational activities for thalassaemia patients to mark occasions such as Independence Day, Eid, World Thalassaemia Day, and more. KITCC has also initiated Thalassaemia Centres in Khanpur, Muzaffar Garh, Sargodha, Abbotabad and Lahore.

blood disorders including thalassaemia, sickle cell anaemia, haemophilia and leukaemia.

Violating the agreement made between the IMCH Superintendent and the BPPC, the hospital authority denied treatment to three thalassaemia patients - Manjusha (21), Vpinkumar (20) and Hasna (19). The patients were unable to attend the adult general medical department due to a proven lack of sufficient haematological care. The hunger strike was led by Kareem Karassery, Gen. Convener of BPPC, and was supported by the patients who did not receive blood transfusions for four days.

M.K. Ragavan, a member of Indian parliament and member of the parliamentary standing committee of health, contacted Mr Kareem Karassery by telephone in support of the hunger strike.

On 5th May, Medical College police arrested Mr Karassery along with M.P. Moideen and took them to the Medical College police station, admitting them for treatment for giddiness and fatigue and bringing the hunger strike to an end.

For more than two decades, BPPC has been fighting for a wellequipped haematology centre in Kerala state for the expert treatment of blood disorders. contd p.24

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beneficiaries in Lebanon.

“We are very pleased that this agreement will help us to provide better health care for Palestine refugee children”, said Salvatore Lombardo, speaking on behalf of UNRWA. “With the condition showing high prevalence among the refugee community in Lebanon, this collaboration will be of great importance to the families we serve.”

Denial of treatment to thalassaemia patients over the age of 18 years by the Maternal and Child Health (IMCH) Medical College Hospital at Kozhikkode.

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saemia". Dr Chhabra currently works as a scientist at the Sri Aurbindo Institute of Medical Sciences, Indore, and hopes that his success will “… encourage all our colleagues who are thalassaemics and their parents to come out from all the agony in which we are living and think that there is hope [for the] future.”

Success for Rhavindra Chhabra Dr. Ravindra Chhabra, a thalassaemia major patient who has required blood transfusions every 25 days since 1985, recently completed his PhD degree from India's reputed Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow. The topic of his thesis was "Genetic Determinants of Thalas-

TIF speaks out for Iranian patients In support of the efforts of the Charity Foundation for Special Diseases (CFFSD), TIF has expressed the concerns of the whole thalassaemia family to the UN Secretary Mr. Ban Ki-Moon, regarding the political situation in Iran, which is now facing intensified sanctions and how can these decisions compromise the treatment and consequently the lives of patients, in Experience of the embargo in Iraq in previous times, confirms the dramatic impact such limitations have on the care of patients suffering from lifelong disorders such as thalassaemia.

particular those suffering from chronic diseases such as thalassaemia and haemoglobinopathies.

TIF has requested from its member thalassaemia associations to express their own letter of concern in the hope that with our combined efforts the situation will soon be resolved, allowing for medical equipment and drugs to be imported in the country.

22 August 2012 His Excellency, Mr. Ban Ki-Moon Secretary General The United Nations 1 United Nations Plaza New York, NY10017-3515 Fax (212) 963 - 7055

Your Excellency, Subject: Urgent Request for UN Support to Thalassaemia Patients in Iran We understand that sanctions on the banking transactions of Iran affect immensely the country’s ability to buy and sell and in this way will limit the provision of essential elements of care of patients including life saving drugs. Even though there is no direct embargo on health products, the imports of drugs, equipment and consumables are expected to be severely limited.

Experience of the embargo in Iraq in previous times, confirms the dramatic impact such limitations have on the care of patients suffering from lifelong disorders such as thalassaemia. In Iraq common drugs like insulin and commonly used consumables such as blood bags for transfusion and even disposable syringes underwent procedures such as “boiling” to secure sterilising and the possibility to be reused. The effect on both morbidity and mortality was devastating for quite a long time.

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Iran is a high prevalence area for thalassaemia. The carriers of this hereditary disease constitute 6% of the total population and there are at least 22000 affected patients registered. There is an effective prevention programme in Iran which was built up with considerable efforts, hard work and undivided commitment on behalf of all stakeholders: government, medical and patient communities and the community at large. If this collapses because of lack of resources, as many as 1000 new affected births can be expected every year.

Similarly and for some time now, the government of Iran provides all treatment modalities free and this has made this country an example for other to follow. If patients are to pay out of pocket on the black market or simply not be supplied with essential elements of their treatment the effect will be as tragic as it was in Iraq some decades ago.

Thalassaemia care requires multidisciplinary approach and as such essential elements include: • Adequate and safe blood for transfusions – will this continue if essential tests for hepatitis C and HIV cannot be provided?

• Consumables such as blood filters, various types of infusion pumps, laboratory reagents etc.

• Essential drugs which for thalassaemia are expensive: • Antibiotics since these patients are prone to infections • Vaccines – all thalassaemia patients should be protected from pneumococci, meningococci, haemophilus influenza and hepatitis B • Iron removing drugs: these need to be taken daily and throughout life. They constitute the most expensive element of treatment. Interruptions in treatment will lead to accumulation of iron and damage to vital organs, mainly the heart and the liver with subsequent increased rates of morbidity and hospitalization. Even in well-treated patients interruptions (for example due to non-compliance) can prove fatal and heart disease remains the major cause of death. If these drugs become unavailable then the death rate will increase and affect the younger patients.

• Complications of iron overload can be detected early and prevented or their impact reduced by careful monitoring by specialists in cardiology, liver disease and endocrinology. This multidisciplinary approach is supported by technology such as MRI and echocardiography.

At present thalassaemia care is at good level in Iran at least for the majority of patients, and there is active research by medical professionals. Can this pro-active and holistic approach be sustained in a state of embargo?

Will the death of patients serve to change the politics of a country or will it be a stain on those who chose to ignore their health in order to triumph in a political arena? Is an economic embargo selective enough to protect the weaker and innocent members of a community? Experience of the past does not confirm such an assumption.

As a Federation with exclusive patient orientation we request extremely urgent attention and action on behalf of the United Nations (UN) and the agency especially concerned with health, the World Health Organisation (WHO).

On behalf of the Board of Directors of the Thalassaemia International Federation (TIF), we remain deeply in expectation of your comments and directions and rely whole-heartedly on the capacities and authorization you are entitled through your position as the General Secretary of the United Nations.

Sincerely, Panos Englezos President, Thalassaemia International Federation

Send us your news!

If you have important news you want to share with the world thalassaemia community, let us know! thalassaemia@cytanet.com.cy

SEPTEMBER 2012 www.thalassaemia.org.cy

As a Federation with exclusive patient orientation we request extremely urgent attention and action on behalf of the United Nations (UN) and the agency especially concerned with health, the World Health Organisation (WHO).

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Policy update: clinical trials

In contrast to popular belief, not all clinical trials are sponsored by pharmaceutical companies – indeed nearly 40% are funded by other stakeholders such as academic institutions and non-governmental organizations.

Clinical trials are an integral part of clinical research. They are essential for the development of new medicinal products and the improvement of existing treatments. Approximately 4,400 applications for authorization to conduct clinical trials in the European Union are submitted every year by researchers.

A clinical trial in the European Union is defined by Directive 2001/20/EC as a clinical study that aims to investigate the therapeutic effect(s) of medicinal products that have not yet been authorized by regulatory bodies such as the European Medicines Agency, or the value of authorized drugs in cases other than those for which it has been authorized. In addition, clinical trials are considered to be studies that seek to assign specific products to a therapeutic strategy or propose to investigate effective diagnostic or monitoring procedures.

In contrast to popular belief, not all clinical trials are sponsored by pharmaceutical companies – indeed nearly 40% are funded by other stakeholders

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Clinical Trials Register Last year’s launching of an online register by the European Medicines Agency has, for the first time, given public access to information on clinical trials for medicinal products authorised in the European Union. The database also allows the public to search for information on clinical trials authorised to be conducted outside the EU if these trials are part of a paediatric investigation plan.

Lise Murphy, co-chair of the European Medicines Agency Working Party of Patients’ and Consumers’ Organisations, of which TIF is a member, has said that the register ‘increases transparency of medical research and makes it much easier for patients to find information about clinical trials taking place in Europe’. such as academic institutions and nongovernmental organizations.

Heavy criticism and decline in clinical research: the need for revision Directive 2001/20/EC on the implementation of good clinical practice in the conduct of clinical trials on medicinal products for human use, is based on Article 114 of the Treaty on the Functioning of the European Union. Its aim is to harmonize the regulatory framework for clinical trials across the 27 Member States. The Directive went a long way to ensure a high level of patient safety, but its complicated rules and procedures led to an unfavourable

regulatory framework for clinical research. Indeed it has been the most criticized EU legislation where pharmaceuticals are concerned, as indicated by stakeholders including professional bodies, the patients’ community and industry. In fact a decrease of 25% between 2007 and 2011 was noted in applications for clinical research attributed to the combined factors of increased costs and the launching augmented time delays of 90%!

Therefore a boost in clinical research by combating these issues has been necessary for some time now, in order to promote the pursuit of new therapeutic avenues through simplified, modernized

FEATURE

Regulations are the most direct form of EU law and have binding legal force throughout every Member State as soon as they are passed.

and expedited procedures.

In this context, and after an extensive consultation period, the European Commission adopted on 17 July a Proposal of the European Parliament and of the Council for the revision of the Directive 2001/20/EC on clinical trials.

John Dalli, European Commissioner for Health and Consumer Policy has stated in the press statement released by the Commission ‘today's proposal significantly facilitates the management of clinical trials, while maintaining the highest standards of patient safety and the robustness and reliability of trial data’.

The proposal seeks to accelerate and simplify the authorization and reporting procedures whilst maintaining patient safety to the highest standard.

In addition, the robustness and reliability of data collected during the clinical trial is safeguarded and transparency is secured, including information on trials performed in third countries.

A unified, harmonized legislation for clinical trials was deemed necessary since, under the old Directive, legislation for authorization, application procedures and marketing authorization processes differed in Member States.

The new legislation, which is now a Regulation rather than a Directive, and is mandatory to be adopted in all the 27 Member States, will ensure one regulatory framework is adhered to.

Directives present specific goals that must be achieved in every EU Member State and the national authorities have to adapt their laws to meet

these goals, but are free to decide how to do so. Unlike Regulations, Directives may concern one or more Member States, or all of them. Each Directive specifies the date by which the national laws must be adapted.

This will stimulate ‘academic’ and multi-national clinical trials, thus strengthening the Commissions’ dedication in encouraging the development of cross-border consortia and data collection. In addition it will hasten the distribution of medicinal products authorized for human use as there will be no heterogeneous legislation hindering the completion of clinical trials.

Stepping into the future The new Regulation will ensure that the rules for conducting clinical trials will be identical throughout the EU. Thus, the authorization procedure will progress more rapidly. Moreover, simplified reporting methods will avoid duplication of submitting similar information to various bodies. These two proposals will facilitate the Commission to verify that all the rules are being adhered to and allow for greater transparency.

The new flexible and fast assessment procedures will not demand the establishment of any more bureaucratic bodies as the European Commission, Member States and the European Medicines Agency will undertake the implementation and supervision of various aspects of the new Regulation. For example, the assessment procedure will be controlled by Member States, whereas the portal for submitting an application will be managed by the Commission. This makes it easier for multi-national consortia to submit applications or for existing clinical trials to be extended to another Member State.

In view of the Commissions encouragement of research by consortia located in more than one Member State, thus strengthening the robust-

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FAST FACT:

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The new Regulation will ensure that the rules for conducting clinical trials will be identical throughout the EU. ness of the data collected, most clinical trials are initiated by networks located across several Member States. In some cases, for practical or legal reasons, these networks have difficulties in establishing who amongst them would act as the single legal entity responsible for the trial (‘single sponsor’). To address this difficulty whilst ensuring the effective supervision of a clinical trial, the proposed Regulation introduces the concept of ‘co-sponsorship’. All co-sponsors are responsible for the entire clinical trial, and also individual parts of the trial. In addition, all co-sponsors remain responsible for establishing a sponsor who can take measures requested by a Member State, and who can give information on the clinical trial as a whole.

Maintaining high standards of quality and safety are at the heart of the new Clinical Trial Regulation, safeguarding the health and well-being of clinical trial subjects whilst developing innovative methods of diagnosis and treatment.

What happens now?

The legislative proposal will be discussed further in the European Parliament and in the Council for additional comments and / or amendments.

It is expected to come into force in 2016.

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New Focus – Emerging alassaemia Syndromes

By Dr. Androulla Eleftheriou

The sad side of this global story is that successful strategies and impressive survival rates with high quality-of-life indices are only in place in very few countries, the majority being in Europe, North America and Australia.

Strengthening our support to patients with thalassaemia beyond β-thalassaemia major In the past three decades, extensive research and focus on the prevention, diagnosis, management and cure of β-thalassaemia major have resulted in better health, survival and quality of life for patients with this disease.

Curative methods (HSCT for some time now, and gene therapy in more recent years), have demonstrated impressive results and prospects, justifiably raising the hopes and expectations of the patient/parent community worldwide.

Similarly, the essential elements comprising the other component of control, ‘prevention’, have been well identified and implemented in a number of countries albeit still too few. But these countries have developed successful models and integrated control strategies into their national health policies. They are primarily countries of Southern Europe but are currently being followed by others both from within and outside Europe. If there’s one ‘safe’ statement that can be made today about β-thalassaemia major it is that, where mainly political commitment exists, this disease can be successfully prevented and appropriately treated.

The struggle for better health and quality of life is an ongoing one and as the patient population is aging, new issues are constantly emerging that call for more attention, research and clinical studies/observations.

These, are mainly heart complications - different from those on which focus has been given in the past decades - the management of which has indeed brought about a revolution in the survival and quality care of patients across the globe. But there

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are many other long-term problems and complications that need attention, such as liver disease, infections with Hepatitis C and/or B, thrombosis, fertility, pain and osteoporosis just to mention a few.

The sad side of this global story is that successful strategies and impressive survival rates with high qualityof-life indices are only in place in very few countries, the majority being in Europe, North America and Australia.

Unfortunately, the reality is that although the “know how” and technical knowledge exists and is available in the majority of the countries (including those of the developing world where thalassaemia is most prevalent, either as a result of high genetic frequency or large populations), national control programmes are very scarce and the status of development and/or implementation of the different components of these programmes is extremely heterogeneous within and between these countries.

The true picture today is that in the majority of “affected” countries: • this disease is still not a priority on the national health agendas; • significant number of affected individuals are still being born and die at early ages; • patients voice and active involvement is still at infancy level; Despite: • considerable political movements forward e.g. WHO Resolutions, EU recommendations and • existence of knowledge and expertise on the part of the medical/scientific communities in many parts of the world One of the main problems in estimating the global disease burden for thalassaemia, which is the prerequisite to bringing it to the interna-

tional health agendas as a priority, is the “serious lack of reliable and updated epidemiological data and information about the clinical course, complications and mortality rates of the other thalassaemias, such as βthalassaemia intermedia, HbE/β and HbH respectively.

Indeed the focus in more recent years is on the elucidation and better understanding of the pathophysiology, natural history and management of what are to date considered as the β-thalassaemia intermedia forms.

Relatively few population analyses of gene frequencies and studies on the natural history of different haemoglobin disorders beyond those of β-thalassaemia major have been carried out. Rather, in the majority of the countries of the world, considerable work has been focused mainly on the underlying mutations that are involved. Today, we know with sufficient certainty that the serious forms of β-thalassaemia are almost equally divided between β-thalassaemia major and intermedia and other forms until now referred to as “intermedia” thalassaemias including HbH and HbE/β thalassaemia.

The latter, originally occurring at a high frequency in populous parts of the world including the Indian subcontinent, Bangladesh, Myanmar and throughout South East Asia, while the α-thalassaemia (HbH) is more prevalent in South East Asia.

Worldwide HbE/β-thalassaemia may be the most important form of haemoglobinopathy because of the high gene frequencies for both HbE and β thalassaemia. As a result of large population movements, HbE/β-thalassaemia has replaced β-thalassaemia major and emerged as the most common disorder in many regions beyond the boundaries of the countries where they originally occurred.

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In the same way and contrary to past years, HbH disease is seen to be moving and spreading across the world in countries where it was previously rarely seen, such as North America and Europe (with the exception of Southern European countries where HbH, together with β thalassaemia major, occurred at high prevalence in the indigenous populations).

As a result of changing demographics, these disorders (HbE/ β and HbH) have now become more common than β-thalassaemia major in many regions and, together with homozygous α-thalassaemia, affect at least a million people worldwide. Although considerable knowledge has been compiled on β-thalassaemia intermedia, the other main forms of thalassaemias (HbE/β and HbH), have been always been considered as the “intermedia”, “milder” or “clinically less significant” thalassaemia syndromes in terms of management and care. As such and because of their geographic confinement in the older times, their diagnosis and management has remained under-recognised and poorly addressed or entirely unaddressed.

In β-thalassaemia intermedia, the natural history of which has been studied for sometime now and more comprehensively in recent years, three main factors appear to be responsible for the clinical sequel: (i) ineffective erythropoiesis, (ii) chronic anaemia and (iii) iron overload. These are linked to the various complications that are more frequent in this form of thalassaemia as compared to β-thalassaemia major, such as PHT, with secondary heart failure (Hf ), thromboembolic phenomena, endocrinopathy, bone disease, liver disease, fibrosis or cirrhosis and risk of HCC. Current models for iron metabolism in these patients suggest

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that the combination of ineffective erythorpoesis, anaemia and hypoxia lead to a compensatory increase in serum erythropoietin (EPO) and a decrease in hepcidin resulting in increased intestinal absorption and increased release of recycled iron from the reticuloendothelial (RE) system.

This subsequently leads to macrophage iron depletion, relatively low serum feritin and preferential portal and hepatocyte iron loading.

This proposed model is similar to that described for the hereditary forms of haemochromatosis and is in contrast to the regularly transfused thalassaemia major patients, who do not have low hepcidin levels and iron is preferentially distributed to the RE system, stimulating ferritin synthesis and its release into the circulation.

Thus, the thalassaemia intermedia patients’ serum ferritin levels, although correlating with LIC, underestimate iron load as compared with thalassaemia major patients with equivalent LIC. Direct LIC measurement or use of a better indicator than serum ferritin, are currently recommended by experts. It is evident that these patients require appropriate monitoring, assessment and management as more and more information is accumulated, hence the

need for focusing efforts and work on developing specific guidelines.

Today, novel findings from large cohorts of patients are providing information that will hopefully bridge the gap between evidence and practice by calling for prospective clinical trials that will evaluate the efficacy, safety and cost effectiveness of proposed/ recommended therapies. Such studies are expected to evaluate the optimal timing, dose and duration of transfusion, iron chelation, or hydroxyurea therapy. Although most of the studies leading to the concept of the iron metabolism model as described above and the natural history of the disease and its complications have concentrated on and have been extracted from patients with β-thalassaemia intermedia, it is expected that a great deal of this knowledge will also apply to the other “intermedia forms” such as HbE/β-thalassaemia and HbH (α-thalassaemia). In spite of this, considerably more studies are needed in these patient populations in order to better define the natural history of these forms, which are highly variable and poorly studied.

Their phenotypes can also range from asymptomatic to transfusion contd p.30

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In the same way and contrary to past years, HbH disease is seen to be moving and spreading across the world in countries where it was previously rarely seen, such as North America and Europe.

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It is essential for the medical/ research community in the field to move forward and identify reliable, accessible and considerable less costly tools in order to monitor regularly and accurately the LIC in these patients.

dependent as with β-thalassaemia intermedia.

Approximately 50% of the patients with HBE/ β-thalassaemia are phenotypically similar to β-thalassaemia major patients and as such they require regular transfusions. The clinical course for the other 50% resembles that of β-thalassaemia intermedia. The marked variability and clinical course in HbE/ β-thalassaemia is still largely unexplained. The same factors that lead to β-thalassaemia intermedia, including: heterozygosity with β + thalassaemias (mild mutations), co-inheritance of α-thalassaemia mutation (which occurs in 15% of patients with this form) and inheritance of the XmnI+/f genotype of the g-gamma globin gene, may also contribute to milder clinical course in these forms of thalassaemia.

Ineffective erythropoesis, apoptosis and oxidative-damage are central components of the disease as described in β-thalassaemia intermedia and the instability of HbE and the expression of α-haemoglobin stabilizing protein do not appear to be major factors in the pathophysiology of HBE/ β-thalassaemia intermedia.

In the absence of markedly elevated ferritin levels, non-transfusion iron load in HbE/β-thalassaemia intermedia can result in widespread organ injury. For example, current evidence suggests that in the absence or presence of transfusion therapy, LIC levels between 6-7mgFe/g alone are associated with an increased occurrence of morbidity, suggesting maintaining LIC levels below 5mg/Fe. Thus, it is critical to understand when to initiate, know how to monitor and how to manage chelation therapy in these patients.

It is of immense importance, given the wide variety of complications associated with the pathophysiology of these previously thought of

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as “Non-transfusion dependant thalassaemias” and the model of their iron metabolism, to consider accurate and proactive monitoring of LIC and development of complications in order to allow for prompt initiation of blood transfusion and iron chelation therapies. It has been demonstrated in one of the biggest studies, albeit only on patients with β-thalassaemia intermedia, that transfusion therapy was protective for thrombosis EMH, PHT, heart failure, cholelithiasis and leg ulcers. While at the same time it was associated with an increased risk of endocrinopathy. Iron chelation was in turn protective for endocrinopathy, PHT and iron-related liver disease.

Hydorxyurea treatment on the other hand was associated with an increased risk of hypogonadism and was protective of EMH, PHT, leg ulcers, hypothyroidism and osteoporosis. Splenectomy in the same study was, shown to be independently associated with an increased risk of most disease-related complications, the role of splenectomy, however deserving revisiting.

It is essential for the medical/ research community in the field to move forward and identify reliable, accessible and considerable less costly tools in order to monitor regularly and accurately the LIC in these patients.

Finally, it is essential to put together, as soon as possible, all knowledge and information available in the context of Guidelines specifically addressing the needs of patients with these forms of thalassaemias, while continuing to collate data, including epidemiological ones, that will fill in the many gaps still present today with regards to these forms of thalassaemias.

HbH disease deserves a slightly separated reference, as this is a form of a-thalassaemia that is often manifested clinically as thalassaemia

intermedia (β or HbE/ β) with moderate anaemia. It is commonly found in South East Asian, Middle Eastern and Mediterranean populations. There is a wide spectrum of genotypes and phenotypic presentations. These, as in the case of β-thalassaemia intermedia and HbE/β, range from those who appear clinically to be asymptomatic, to others who are more anaemic, having significant hepatosplenomegaly and requiring occasional or even regular transfusions, to the severe HbH hydrops faetalis syndrome that can cause death in affected foetuses late in gestation.

This hereditary disorder is usually caused by deletions removing all but one single a-globin gene (detectional HbH disease). A small proportion of patients have deletions removing 2 a-globin genes plus a nondeletional mutation affecting a third a-globin gene (nondeletional HbH disease). In general, non-deletional HbH disease has a more severe clinical course than the deletional form.

Review of recent literature suggests that HbH disease is not as benign a disorder as previously thought. It can bring about growth retardation during childhood and iron overload in adults regardless of previous transfusion history, leading to hepatic, cardiac and endocrine dysfunction. Significant anaemia might occur during infections, fever, hypersplenism, or pregnancy that may necessitate the need for blood transfusions. An essential part of the maternal/child healthcare should include screening the partners of all pregnant women with HbH disease for their thalassaemia carrier status, and providing these and other couples who are at risk of conceiving offspring with HbH disease with appropriate genetic counselling.

Scientific Section

Conclusions: The prognosis for patients with the haemoglobinopathies that are newly emerging in Western and Northern Europe, in North America and elsewhere where there are robust health infrastructures and capacities to provide treatment, is strongly dependent on the healthcare system’s approach to these disorders. Prenatal diagnosis, neonatal screening, comprehensive care and access to new therapies including transfusion and chelation therapy, stem cell trans-

plantation and HbF–enhancing agents are important components of care. Addressing the economic and cultural barrier and increasing the knowledge of physicians about these disorders should improve the overall care of affected patients.

However, the real problem is still in the countries where the disorders are most prevalent and occurring amongst the indigenous populations and which unfortunately include the majority of the countries of the developing world. It is therefore now important to move beyond β-thalassaemia major and address these forms of thalassaemia more effectively at the national and international level.

TIF is committed to embark on important services for these patients, such as the preparation of guidelines, awareness and training campaigns, both for the patient and medical communities and importantly for the national, regional and international health bodies.

It is the responsibility of us all to immediately address the needs of patients with HbE/β, HbH and β-thalassaemia intermedia, in terms of appropriate education, awareness, medical and other care, in order for them to enjoy to the maximum extent possible, good quality, fulfilling lives. Through this brief article, which is a combination of information published by experts in the field, TIF takes the first steps forward to offer support to these patients globally.

For more details, please read TIF’s position paper on Non-Transfusion Dependent Thalassaemias available on our website. Other TIF position papers include: • Counterfeit medicine • Patients rights • Information to Patients • Chronic Hepatitis C

References Correspondence “Age-related complication in treatment-naïve patients with thalassaemia intermedia” 2010 Blackwell Publishing Ltd, British Journal of Haematology, 150, pg480-497 David H.K. Chui, Suthat Fucharoen and Vivian Chan “Hemoglobin H disease: not necessarily a benign disorder”, Blood, 1 February 2003, Volume 101, Number 3, pg.791-800 Taher A., Mussallam K.m. et al “Overview on practices in thalassaemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study”. Blood, 11 March 2010, Volume 115, Number 10, pg.1886-1892 Mussallam M.K, Cappellini, M.D, et al “Iron overload in non-transfusion-dependent thalassaemia: a clinical perspective”, Blood Reviews, 26S (2012), 16-19 Taher A, Hershko C and Cappellini M.D, Review: “Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies”, British Journal of Haematology. 2009. Blackwell Publishing Ltd, 1-7 Faulkner L, Yqub N, et al “Transplantation in Low Resource Countries” abstract from the 1st Pan-Asian Conference on Haemoglobinopathies, February 2012, Bangkok, Thailand Bread L, Casu C et al “Therapeutic Hemoglobin levels after gene Transfer in β-Thalassaemia Mice and in Hemotopoietic cells of β-Thalassaemia and Sickle Cell Disease Patients”, PloS ONE, March 2012, Volume 7, issue 3, e32345 Mussallam K M, Taher A and Rachmilewitz A, “β-Thalassaemia Intermedia: A Clinical Perspective”, Cold Spring Harb Perspect Med 2012; 2a013482 Treatment of β-Thalassaemia Major with Autologous CD34+ Hematopoietic Progenitor Cells Thalagen TM , a Lentiviral Vector Encoding the Normal Human β-Globin Gene”, ClinicalTrials.gov, identifier: NCT01639690

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TIF MAGAZINE

Prospective and systematic studies of the natural history of HbH disease, particularly during infancy and childhood, as well as during pregnancy, have not been carried out to date and are much needed. Information derived from these investigations can lead to better insight to potential risk factors associated with severe disease and can help to formulate future medical interventions and treatment strategies.

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The real problem is still in the countries where the disorders are most prevalent and occurring amongst the indigenous populations and which unfortunately include the majority of the countries of the developing world.