The Negro Variety of Hereditary Persistence of Fetal Haemoglobin is a Mild Form of Thalassaemia
The Negro Variety of Hereditary Persistence of Fetal Haemoglobin is a Mild Form of Thalassaemia
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胎儿血红蛋白遗传性持续存在的黑人变异是地中海贫血的一种轻度形式
DOI：
10.1111/j.1365-2141.1976.tb03599.x
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发表时间：
1976
影响因子：
6.5
通讯作者：
D. Weatherall
中科院分区：
文献类型：
--
作者：
S. Charache;J. B. Clegg;D. Weatherall
摘要对来自巴尔的摩的15岁黑人男性的血液进行了进一步的研究，他是第一例报告的胎儿血红蛋白遗传性持续存在纯合子状态的病例。他的红细胞只含有血红蛋白F，从未检测到血红蛋白A和A2。在15年的随访期内，该个体的红细胞显示出持续性小红细胞增多，MCH和MCV值降低。他的全血p50值降低，可能是因为Hb F和2，3-二磷酸甘油酸之间缺乏相互作用。然而，他15岁时的血红蛋白水平低于从氧亲和力增加的程度所预测的水平。珠蛋白链合成研究表明，这是因为他患有轻度地中海贫血症，α/γ链产生比约为1.5，与β地中海贫血杂合子相似。因此，Negro HPFH似乎是δβ地中海贫血的一种代偿良好的形式。
Summary. Further studies have been carried out on blood of the 15‐year‐old Negro male from Baltimore who was the first reported case of the homozygous state for hereditary persistence of fetal haemoglobin. His red cells contain only Hb F; Hbs A and A2 have never been detected. Over a 15‐year period of follow up the red cells of this individual have shown persistent microcytosis with reduced MCH and MCV values. His whole‐blood p50 value is decreased, probably because of lack of interaction between Hb F and 2,3‐diphosphoglycerate. However, his haemoglobin level at the age of 15 years is lower than would be predicted from the degree of increased oxygen affinity. Globin‐chain synthesis studies suggest that this is because he has a mild thalassaemia disorder with an α/γ‐chain production ratio of about 1.5, similar to that found in β‐thalassaemia heterozygotes. Thus Negro HPFH appears to be a well‐compensated form of δβ thalassaemia.