DIAGNOSTIC METHODS FOR α- AND β-THALASSEMIA
Keywords:
α- or β-thalassemia, globin chains, molecular defects, molecular genetic research methods.Abstract
Thalassemias are a group of congenital microcytic hemolytic anemias that are characterized by a defect in hemoglobin synthesis. Thalassemias can be defined as α- or β-thalassemias depending on the defective globin chain and the underlying molecular defects. Alpha thalassemia is especially common among people of African, Mediterranean, or South Asian descent. Beta thalassemia is more common in people of Mediterranean, Middle Eastern, South Asian and Indian origin. Symptoms and signs are caused by anemia, hemolysis, splenomegaly, bone marrow hyperplasia, and iron overload may occur with repeated blood transfusions.
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