Double Heterozygosity for α- and β-Microcytemias

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Abstract
Twelve families with sure or probable heterozygotes for α- and β-microcytemias are described. A constant finding in all these subjects is a high percentage of Hb A2 accompanied by a normal amount of Hb F, as in the usual β-microcytemics. The hematological picture is that of microcytemia. There are, however, three exceptional subjects who show a normal hematological picture, as the subjects previously described by Silvestroni and Bianco in 1957. These previous observations could be interpreted, in the light of the present findings, as double heterozygosity for α- and β-microcytemia genes with approximately equally depressed rates of synthesis of the respective polypeptide chains. The phenotypes of the carriers of the β- and of one of the two α-microcytemic genes and the diagnostic importance of the studies dealing with the relative rates of α- and β-chain biosynthesis in various relevant conditions are illustrated and discussed.

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