Sickle Cell Disease

Sickle Cell Disease Name Institution Date 09/30/2023

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Background information  Sickle cell disease (SCD) is caused by an alteration in the HBB  Reb blood cell that carry’s hemoglobin assumes the sickle cell  An individual who is heterozygous for BS allele is not affected  homozygous person for the Bs allele is prone to SCA, a type of SCD characterized by hemolytic anemia.

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Types of sickle cell disease

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Abnormal gene of hemoglobin from one parent and People with Hbss type of SDC acquire two sickle cell genes from the parents.  An Individual with Hbsc this type of SDC sickle cell gene from one parent.  People with Hbs beta-thalassemiainherit sickle cell gene "S” and betathalassemia gene from one parent.  HbSD, HbSE, and HbSO- this type of SDC inherit one sickle cell gene from the parent and another gene from an abnormal form of hemoglobin D, E, and O.

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Demograph ics

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 According to the Centre for Disease and Control (CDC) statistics, millions of people are affected by SDC globally.  SDC affects 100,000 Americans, one out of 16300 Hispanic Americans, and one out of 13 blacks are born with sickle cell traits (Kato et al., 2018).

Signs and symptoms of SCD Anemia Episode pain. Swelling of feet and hands Delayed development Vision problems. Frequent infection

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Treatmen t of Sickle Cell Disease

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Stem cell transplant  Hematopoietic stem cell (HSC) transplant for symptomatic human leukocyte antigen (HLA) has been a promising curative of SDC.  Allogeneic HSC transplants  HLA from a healthy matched donor is donated to the HLA recipient

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2) Erythrocyte transfusion  This is a therapy that decreases the number of sickles cells in circulation and improves microvascular flow.

3) Hydroxyurea  Hydroxyurea drugs aim at reducing pain, prevent complications, and risk of infections.  Patients with severe pain are given opioids.

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Documenta ries and future developme nt

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 A short documentary from American Society Hematology (ASH)  Gene therapy increases the potential treatment of SCD where the gene is replaced using a viral vector.

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Referenc es 

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Kafando, E., Ayeréoue, J., Nikiéma, M., Toé, E., Obiri-Yeboah, D., Kam, L., & Simporé, J. (2017).

International Journal of Current Advanced Research.

Kato, G. J., Piel, F. B., Reid, C. D., Gaston, M. H., Ohene-Frempong, K., Krishnamurti, L., ... & Vichinsky, E. P. (2018). Sickle cell disease. Nature Reviews Disease Primers, 4(1), 122.

Urbinati, F., Campo Fernandez, B., Masiuk, K. E., Poletti, V., Hollis, R. P., Koziol, C., ... & Kohn, D. B. (2018). Gene therapy for sickle cell disease: a lentiviral vector comparison study. Human Gene Therapy, 29(10), 1153-1166.

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