The triplicated α gene locus and β thalassaemia

Publisher Website
Google Scholar
Abstract
In 5 families, the coinheritance of .beta. thalassemia and an additional .alpha. gene (.alpha..alpha..alpha./.alpha..alpha.) was observed. Among the .beta. thalassemia heterozygotes, no phenotypic effect of the triplicated .alpha. gene was detected clinically or at the hematological level. Unexpectedly, however, 4 out of 5 .beta. thalassemia homozygotes with the .alpha..alpha..alpha./.alpha..alpha. gene complement had the milder clinical condition of thalassemia intermedia and in at least 1 case there was evidence to suggest that this might be due to the .alpha..alpha..alpha. gene arrangement acting as an .alpha. thalassemia allele.