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Hereditary Diseases Disease

What it is (Description)



Sickle cell disease

Group of inherited disorders characterized by defective hemoglobin synthesis.

Medications to reduce pain, blood transfusions and supplemental oxygen. Marrow transplant.


Cystic fibrosis

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus,


Phenylketonuria (PKU)

Genetic disorder in which the body can't process part of a prot.ein called phenylalanine.

It begins with techniques to trigger strong coughs that help loosen and clear thick mucus from the airways. Nutrition and drug therapies are also important for children and adults with cystic fibrosis. The best treatment for PKU is a diet of lowprotein foods.


Muscular dystrophy

Progressive weakness and degeneration of the skeletal muscles that control movement.

Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery.



Rare bleeding disorder in which the blood doesn't clot normally.

There´s not an specific treatment.


Tay-Sachs disease

Rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord

There´s no cure for Tay-Sachs.


Angelman syndrome

Complex genetic disorder that primarily affects the nervous system.

There´s no cure, but with time the symptoms become less strong.





Hereditary Hemochromatosis


It is a genetic disorder in humans which leads to stunted growth or dwarfism. Individuals suffering from this disorder have disproportionate and short limbs.

There´s no treatment for this condition.

Hereditary Hemochromatosis.

There´s no treatment for this because the excess of iron cannot be eliminated.

Down Syndrome

Caused due to an extra copy of chromosome 21 is characterized by a round face, narrow chin and bulging eyes.

Can be controlled if it is diagnosed when the child is in the womb.


Hereditary Spherocytosis

Produced in an abnormal shape due to which the cell membrane gets ruptured. The damage of the erythrocytes results in hemolytic anemia.

It can be cured by doing surgery to take out the spleen. This is called a splenectomy.


Usher Syndrome

Autosomal recessive disease which is a result of a faulty gene.

There´s not a cure yet.

Hereditary diseases  

Table with common hereditary diseases, what they are, and a possible treatment.

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