The Effect of α-Thalassemia on the Expression of the β-Thalassemia/HPFH Heterozygote in a Black Family

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AbstractA 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a β°-thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family’s α-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single α-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess α chains may contribute significantly to the hematologic manifestation of β-thalassemia.