Ringelhann B, Acquaye C T, Oldham J H, Konotey-Ahulu F I, Yawson G, Sukumaran P K, Schroeder W A, Huisman T H
Biochem Genet. 1977 Dec;15(11-12):1083-96. doi: 10.1007/BF00484499.
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 G gamma A gamma type of HPFH with a G gamma to A gamma ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the G gamma type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a gamma/alpha ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.
先前报道的一位患有胎儿血红蛋白遗传性持续存在(HPFH)的加纳纯合子(Ringelhann等人,1970年)的两个儿子也是HPFH纯合子。此外,还检测到另一位不相关的成年加纳HPFH纯合子。所有这些加纳纯合子以及三位美国黑人HPFH纯合子都具有GγAγ型HPFH,Gγ与Aγ的比例约为3:2,这与具有Gγ型的亚洲印度纯合子形成对比。HPFH纯合子中的珠蛋白链合成不平衡,γ/α比例为0.6或更低,而根据大多数报道,杂合子中的珠蛋白链合成是平衡的。