title: 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.affiliation: Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, England.
authors.forename: A E
authors.initials: AE
authors.lastname: Kulozik
authors.forename: B C
authors.initials: BC
authors.lastname: Kar
authors.forename: G R
authors.initials: GR
authors.lastname: Serjeant
authors.forename: B E
authors.initials: BE
authors.lastname: Serjeant
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000367:Age Factors; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007194:India / Q000208:ethnology; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes