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

Abstract

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.

• Authors: A E Kulozik, B C Kar, G R Serjeant, B E Serjeant, D J Weatherall
• Journal: Blood (Blood) Vol. 71 Issue 2 Pg. 467-72 (Feb 1988) ISSN: 0006-4971 [Print] United States
• PMID: 2827816 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Globins
• DNA Restriction Enzymes

Topics

• Age Factors
• Chromosome Deletion
• Chromosome Mapping
• DNA Restriction Enzymes
• Gene Frequency
• Globins (genetics)
• Heterozygote
• Homozygote
• Humans
• India (ethnology)
• Thalassemia (blood, genetics)