Thalassemia is a recessive trait inherited disease of the red blood cells. Thalassemia is the most common, inherited single gene disorder in the world. The more severe form of the disease is thalassemia major, also called Cooley's Anemia. It is a serious disease that requires regular blood transfusions and extensive medical care.
Thalassemias are classified according to which chain of the globin molecule is affected: in a thalassemia, the production of a globin is deficient, while in ß thalassemia the production of ß globin is defective. It mainly affects people of Mediterranean or Asian ancestry. It usually appears during the first two years of life. Severe thalassemia is treated with blood transfusions and treatment to remove excess iron in the blood.
A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children. Many possible combinations of variant genes cause the various types of thalassemia.
The two main types of thalassemia, alpha and beta.Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected.
The most severe form of alpha thalassemia is known as alpha thalassemia major. It can result in miscarriage. Beta thalassemia occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected and the nature of the abnormality.
Most individuals with alpha thalassemia have milder forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death.
Causes of Thalassemia
Common causes of Thalassemia
Symptoms of Thalassemia
Common Symptoms of Thalassemia
Treatment of Thalassemia
Common Treatment of Thalassemia
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