Beta Thalassemia (3)

Children who are diagnosed with Thalassemia Intermedia have a homozygous or heterozygous beta globin mutation that causes a decrease in beta chain production, but not to the degree that chronic transfusion therapy is required. The phenotype can also occur in children who have a mutation that increases production of c-globin, in children who have co-inherited alpha thalassemia and beta thalassemia, and in other rarer mutations. Children who have thalassemia intermedia are able to maintain a hemoglobin of 7 gm/dl or slightly higher with a greatly expanded erythron and may manifest bony deformities, pathologic fractures and growth retardation. Children who have thalassemia intermedia can also have delayed pubescence, exercise intolerance, leg ulcers, inflammatory arthritis and extramedullary hematopoiesis causing spinal cord compression, a medical emergency requiring radiation therapy and transfusion. They can also have iron overload due to increased absorption of iron from the gastrointestinal tract and intermittent transfusion. They are at risk for the cardiac and endocrine complications of hemosiderosis, but usually at an older age than chronically transfused children. Chelation therapy is indicated for increasing ferritin and elevated liver iron.

Children who can not maintain a hemoglobin between 6 and 7 gm/dl should have an alternative diagnosis considered. If thalassemia is the cause of the anemia, transfusion and/or splenectomy should be considered. Frequently, adolescents and adults are unable to tolerate the degree of anemia that is seen in thalassemia intermedia. Hypersplenism, splenic pain, congestive heart failure secondary to anemia, severe exercise intolerance, thrombocytopenia and leukopenia should be considered indications for beginning transfusion therapy or for splenectomy in the child who has severe hemolytic anemia. <next>

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