Interaction between Hb Hasharon and α-thalassemia: an approach to the problem of the number of human α loci

Abstract

The authors report the case of an Italian infant girl from Polesine (Po delta region in northern Italy) who was heterozygous for Hb Hasharon and α-thalassemia, did not synthesize any normal HbA, and had 3% HbH on electrophoresis. Hematologic and biosynthetic studies on Hb Hasharon carriers of the propositus' family suggest the possibility that the Hb Hasharon gene is linked to an α-thalassemia gene. On the other hand, in the Askenazy carriers of Hb Hasharon, Hb Hasharon is probably linked to a normal α gene. In comparing Hb Hasharon's behavior with that of other α variants, particularly HbG Philadelphia, frequent recombinations between α structural genes were suggested. The possible identity between the single α locus and the α2-thalassemia genotype is discussed.