THE EFFECT OF ALPHA-THALASSEMIA ON THE EXPRESSION OF THE BETA-THALASSEMIA-HPFH HETEROZYGOTE IN A BLACK-FAMILY

  • 1 January 1981
    • journal article
    • research article
    • Vol. 57  (6) , 1132-1134
Abstract
A 2 yr old black girl with thalassemia had nearly 100% fetal Hb in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal Hb gene and for a .beta.0-thalassemia gene. A brother, who had nearly 100% fetal Hb in his red cells, manifested no anemia and only minimal splenomegaly. Examination of the family''s .alpha.-globin loci using the restriction endonuclease Eco RI demonstrated that the brother had a single .alpha.-locus deletion that he inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess .alpha. chains may contribute significantly to the hematologic manifestation of .beta.-thalassemia.

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