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Thalassemia

Thalassemia The thalassemia syndromes constitute a heterogeneous group of hereditary disor­ ders of human hemoglobin synthesis found largely in individuals of Mediterranean, African, and Oriental ancestry. These disorders are characterized by absent or decreased synthesis of the alpha (a) or beta ({3) globin chain of human adult hemoglobin, Hb A [a2{32] (1, 2). In those cases where some of the affected globin chain is synthesized, there is no evidence of an amino acid substitution. However, in all cases where genetic evidence is available, the thalassemia gene appears to be allelic to the structural gene for the a or {3 globin chain. In this review we will attempt to summarize current concepts of the pathophysi­ ology, molecular basis, clinical diagnosis, and management of the more common forms of thalassemia. PATHOPHYSIOLOGY An immediately obvious consequence of the decreased synthesis of one of the two subunits of Hb A is an overall deficit in complete Hb A tetramers accumulated within each erythrocyte. A hypochromic microcytic anemia results.. In the more severe forms of thalassemia, such as homozygous {3-thalassemia, and the a-thalassemia syndrome, Hb H disease; there is, in addition to severe hypo­ chromic microcytosis, a moderate to severe hemolytic process which results http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Medicine Annual Reviews

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Publisher
Annual Reviews
Copyright
Copyright 1975 Annual Reviews. All rights reserved
Subject
Review Articles
ISSN
0066-4219
eISSN
1545-326X
DOI
10.1146/annurev.me.26.020175.002021
pmid
1096772
Publisher site
See Article on Publisher Site

Abstract

The thalassemia syndromes constitute a heterogeneous group of hereditary disor­ ders of human hemoglobin synthesis found largely in individuals of Mediterranean, African, and Oriental ancestry. These disorders are characterized by absent or decreased synthesis of the alpha (a) or beta ({3) globin chain of human adult hemoglobin, Hb A [a2{32] (1, 2). In those cases where some of the affected globin chain is synthesized, there is no evidence of an amino acid substitution. However, in all cases where genetic evidence is available, the thalassemia gene appears to be allelic to the structural gene for the a or {3 globin chain. In this review we will attempt to summarize current concepts of the pathophysi­ ology, molecular basis, clinical diagnosis, and management of the more common forms of thalassemia. PATHOPHYSIOLOGY An immediately obvious consequence of the decreased synthesis of one of the two subunits of Hb A is an overall deficit in complete Hb A tetramers accumulated within each erythrocyte. A hypochromic microcytic anemia results.. In the more severe forms of thalassemia, such as homozygous {3-thalassemia, and the a-thalassemia syndrome, Hb H disease; there is, in addition to severe hypo­ chromic microcytosis, a moderate to severe hemolytic process which results

Journal

Annual Review of MedicineAnnual Reviews

Published: Feb 1, 1975

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