hematology and oncology
Thalassemias
Key Points
Thalassemias result from decreased production of at least one globin polypeptide chain (beta, alpha, gamma, delta); the resultant abnormal red blood cells are microcytic, often abnormally shaped, and prone to hemolysis (causing anemia). Splenomegaly, often massive, is common and can result in splenic sequestration that accelerates destruction of red blood cells (including transfused ones). Iron overload is common because of increased absorption (due to defective erythropoiesis) and frequent transfusions. Diagnose using hemoglobin electrophoresis. Transfuse as needed, but monitor for iron overload and use chelation therapy. Splenectomy may help decrease transfusion requirements for patients with splenomegaly. Allogeneic stem cell transplantation is curative. 