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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
Annual Review of Medicine – Annual Reviews
Published: Feb 1, 1975
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