Stamatoyannopoulos G, Wood W G, Papayannopoulou T, Nute P E
Blood. 1975 Nov;46(5):683-92.
A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black family. Individuals with this anomaly also had sickle cell trait. A sickle cell homozygote who had apparently inherited the HPFH determinant had 20.3% Hb F. Both types of gamma-chains were present in equal proportions in the Hb F of these individuals. A population study revealed other AS individuals with increased Hb F synthesis, three of whom were sibs. The presence of this previously unrecognized form of HPFH might explain the mild clinical manifestations and the hemoglobin phenotypes of sickle cell homozygotes with unusual elevations of Hb F.
在对一个黑人家庭的研究中，发现了一种新形式的遗传性胎儿血红蛋白持续存在（HPFH），杂合子中产生3%-8%的Hb F，通过Kleihauer试验和抗体荧光法测量，F细胞计数升高。具有这种异常的个体也有镰状细胞性状。一名显然遗传了HPFH决定因素的镰状细胞纯合子有20.3%的Hb F。在这些个体的Hb F中，两种类型的γ链比例相等。一项群体研究发现了其他Hb F合成增加的AS个体，其中三人是同胞。这种先前未被认识的HPFH形式的存在可能解释了Hb F异常升高的镰状细胞纯合子的轻度临床表现和血红蛋白表型。
