Abstract
Two sons of a previously reported Ghanaian homozygote for the hereditary persistence of fetal hemoglobin (HPFH) (Ringelhann et al., 1970) also are HPFH homozygotes. In addition, another unrelated adult Ghanaian homozygote has been detected. All of these Ghanaian homozygotes as well as three American Black HPFH homozygotes have the GγAγ type of HPFH with a Gγ to Aγ ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the Gγ type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a γ/α ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.
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These studies were supported in part by grants (HL-05168, HL-15158, and HL-02558) from the National Institutes of Health, U.S. Public Health Service.
This is Contribution No. 5449 from the Division of Chemistry and Chemical Engineering, California Institute of Technology.
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Ringelhann, B., Acquaye, C.T.A., Oldham, J.H. et al. Homozygotes for the hereditary persistence of fetal hemoglobin: The ratio of Gγ to Aγ chains and biosynthetic studies. Biochem Genet 15, 1083–1096 (1977). https://doi.org/10.1007/BF00484499
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DOI: https://doi.org/10.1007/BF00484499