Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies

Abstract

Hemoglobin and DNA gene analyses were carried out in two Black Canadian families. In Family Q, both the parents and the brother were found to be heterozygotes for α-thalassemia-2 with the following α-genotypes: -α^3.7/αα, -α^4.2/αα and -α^4.2/αα, respectively. In Family C, the mother was found to be a homozygote for α-thalassemia-2 with the α-genotype of -α^3.7/-α^3.7. In both families, the propositi were compound heterozygotes for α-thalassemia-2 with the α-genotype of -α^3.7/-α^4.2. Tne propositus in Family C was also a sickle cell trait carrier. The usefulness of DNA gene analyses in family studies of hemoglobinopathy was discussed.