Natta C L, Niazi G A, Ford S, Bank A
J Clin Invest. 1974 Aug;54(2):433-8. doi: 10.1172/JCI107779.
In two black families with the hereditary persistence of fetal hemoglobin (HPFH) gene there are eight A-F heterozygotes and two double heterozygotes for sickle cell trait and HPFH. These patients are clinically asymptomatic and have homogeneous acid elution smears. Measurement of globin chain synthesis in peripheral blood demonstrates balanced production of a alpha and non-alpha (beta plus gamma) chains. In these patients, the balance is achieved by increased gamma globin production and increased activity of the remaining beta globin allele. In two patients, one A-F and the other S-F there is also balanced globin synthesis in the bone marrow. In a double heterozygote for HPFH and beta-thalassemia, anemia (Hb: 11.5 g/100 ml) is associated with a moderate degree of globin chain imbalance. There is a correlation between balanced globin chain synthesis and the absence of anemia in patients with HPFH.
在两个携带胎儿血红蛋白遗传性持续存在（HPFH）基因的黑人家庭中，有8名A - F杂合子以及2名镰状细胞性状和HPFH的双重杂合子。这些患者临床上无症状，酸性洗脱涂片均匀一致。对外周血中珠蛋白链合成的测量显示α和非α（β加γ）链的平衡产生。在这些患者中，平衡是通过增加γ珠蛋白的产生以及剩余β珠蛋白等位基因活性的增加来实现的。在两名患者中，一名是A - F，另一名是S - F，其骨髓中珠蛋白合成也平衡。在一名HPFH和β地中海贫血的双重杂合子中，贫血（血红蛋白：11.5 g/100 ml）与中度珠蛋白链失衡相关。在HPFH患者中，珠蛋白链合成平衡与无贫血之间存在相关性。
