Thalassemia

Thalassemia refers to a syndrome of diseases characterized by decreased or absent production of one or more globin chains. Beta thalassemia is due to deficient production of beta globin chains, which causes a relative excess of alpha globin chains. These excess alpha globin chains are insoluble and precipitate within the red cell, leading to a variety of clinical manifestations.The severity of subsequent clinical manifestations depends on the degree of alpha globin chain excess. The symptoms are severe in patients homozygous for impaired beta globin synthesis and much less severe in heterozygotes, who generally have mild anemia and no symptoms. Alpha thalassemia is due to decreased production of alpha globin chains, resulting in a relative excess of beta globin chains.© 2008