Higgs D R, Hunt D M, Drysdale H C, Clegg J B, Pressley L, Weatherall D J
Br J Haematol. 1980 Nov;46(3):387-400. doi: 10.1111/j.1365-2141.1980.tb05985.x.
A Chinese family has been studied in which two siblings have haemoglobin Q-H disease. Using a combination of haematological and haemoglobin analysis, globin chain synthesis, analysis of alpha/beta globin messenger RNA ratios and restriction endonuclease mapping, it has been shown that each of these siblings has received one chromosome on which both alpha chain genes have been deleted and another on which there is only a single alpha chain locus which carries the alpha Q mutation. Their genotype is thus --/-alpha Q. Despite the fact that the haemoglobin Q mutation in this family is carried on a chromosome with a single alpha chain locus, heterozygous carriers for the variant have only 25% or less haemoglobin Q. Our observations indicate that the molecular basis for haemoglobin Q-alpha thalassaemia is similar to that for the common form of haemoglobin H disease in Orientals. Furthermore, they provide clear evidence that the level of an alpha chain variant in heterozygous carriers is not a reliable reflection of the number of alpha globin genes.
对一个中国家庭进行了研究，该家庭中有两个兄弟姐妹患有血红蛋白Q-H病。通过血液学和血红蛋白分析、珠蛋白链合成、α/β珠蛋白信使RNA比率分析以及限制性内切酶图谱分析相结合的方法，已表明这些兄弟姐妹中的每一个都接受了一条两条α链基因均被缺失的染色体，以及另一条仅带有一个携带αQ突变的α链基因座的染色体。因此，他们的基因型是--/-αQ。尽管该家族中的血红蛋白Q突变位于带有单个α链基因座的染色体上，但该变体的杂合携带者的血红蛋白Q含量仅为25%或更低。我们的观察结果表明，血红蛋白Q-α地中海贫血的分子基础与东方人常见形式的血红蛋白H病相似。此外，它们提供了明确的证据，即杂合携带者中α链变体的水平并不能可靠地反映α珠蛋白基因数量。
