The effect of alpha-thalassemia on the expression of the beta-
thalassemia/HPFH heterozygote in a black family
E Beutler, E Turner and W Kuhl
A 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 beta O- 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 alpha-globin loci using the
restriction endonuclease Eco Rl demonstrated that the brother had a single
alpha-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 alpha chains may contribute significantly to the
hematologic manifestation of beta-thalassemia.
Volume 57,
Issue 6,
pp. 1132-1134,
06/01/1981
Copyright © 1981 by The American Society of Hematology
