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The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene

AE Kulozik, BC Kar, GR Serjeant, BE Serjeant and DJ Weatherall

Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, England.

The alpha globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall alpha thalassemia gene frequency is 0.29, most frequently caused by the -alpha 3.7 and -alpha 4.2 deletions. In one family a novel -alpha 3.5 deletion removing the alpha 1 globin gene with some of its flanking sequences has been found, suggesting further sequence homology of the alpha globin gene cluster 3' to the alpha 1 globin gene. Patients with sickle cell disease and alpha thalassemia had higher hemoglobin (Hb) levels, RBC counts, and Hb A2 levels, and lower reticulocyte counts, MCV, MCH, and Hb F levels than those with a normal alpha genotype. The frequency of splenomegaly was not influenced by the alpha globin genotype. A higher prevalence of alpha thalassemia was found in patients greater than or equal to 10 years of age than in the younger group, suggesting a possible advantageous effect of alpha thalassemia on the survival of patients with sickle cell disease.

Volume 71, Issue 2, pp. 467-472, 02/01/1988
Copyright © 1988 by The American Society of Hematology


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