Functional Activity of the Triplicated ααα^4.2/ Gene Rearrangement

Abstract

Function of the triplicated ααα^4.2/ gene rearrangement was assessed by measurement of W Bart's and hematological phenotype including α/β biosynthesis ratio. Increased output of α globin chains in ααα^4.2 /– compared to αα/– was found in a cord blood. In contrast, hematological phenotypes in two family members with the ααα^4.2/.—genotype were consistent with that expected in αα/–. This would suggest that the additional α gene in the ααα^4.2 / rearrangement has variable expression.