Thalassemia Major: Molecular and Clinical Aspects

doi:10.1059/0003-4819-91-6-883

Thalassemia Major: Molecular and Clinical Aspects

Bethesda, Maryland; and Boston, Massachusetts

Abstract

Thalassemia major is a severe and transfusion-dependent anemia that occurs in persons homozygous for a mutation that affects the capacity for synthesis of the β- globin subunit of hemoglobin. Characterization of the molecular defects that cause β- thalassemia is providing insight into the mechanism of globin gene regulation. Newer approaches to the management of thalassemia major include more effective chelation by use of subcutaneous desferrioxamine and attempts to obtain young erythrocytes with a longer potential for survival in recipient patients. Development of more effective chelators that may be given orally is an ongoing effort. Noninvasive evaluation of cardiac structure and function in patients with thalassemia major suggests that myocardial iron deposits begin at an early age, causing functional impairment long before the onset of clinical symptoms. Prevention or reversal of these cardiac abnormalities remains the goal of chelation therapy.

Article and Author Information

▸An edited transcription of a Combined Clinical Staff Conference at the Clinical Center, Bethesda, Maryland, 25 May 1978, by the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health, Education, and Welfare.
▸Authors who wish to cite a section of this conference and specifically indicate its author can use this example for the form of reference:

BENZ EJ JR. Molecular pathology of the â- thalassemia syndromes, pp. 884-6. In: NIENHUIS AW, moderator. Thalassemia major: molecular and clinical aspects. Ann Intern Med. 1979;91:883-97.
▸Requests for reprints should be addressed to Arthur W. Nienhuis, M.D.; Clinical Hematology Branch, National Heart, Lung, and Blood Institute; Bethesda, MD 20205.
- Received June 27, 1979.
- Accepted September 18, 1979.