Journal of Hematology & Thromboembolic Diseases
Open Access

Articles On Thalassemia

The thalassemias are a group of anemias that result from inherited defects in the production of hemoglobin. The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region, the Indian subcontinent, Southeast Asia, and West Africa. Ineffective bone marrow erythropoiesis and excessive red blood cell hemolysis together account for the anemia.

Since reticulocytes manufacture equimolecular quantities of alpha and beta chains, mature erythrocytes contain essentially equimolecular amounts of each chain. Patients with thalassemia do not produce enough hemoglobin (Hb) A (α2β2) because their cells cannot manufacture either the alpha or beta polypeptide chain of human hemoglobin. Alpha-thalassemia depresses only the production of the alpha chains, and beta-thalassemia depresses only the production of the beta chains. Clinically, both alpha- and beta-thalassemia may occur in the major (homozygous), intermediate, and minor (heterozygous) genetic forms and also can interact with the presence of abnormal hemoglobins in the same individual