Trabuchet G, Benabadji M, Labie D
Hum Genet. 1978 Jun 9;42(2):189-99. doi: 10.1007/BF00283639.
Hemoglobin J Mexico, an alpha chain mutant, was studied in eight unrelated Algerian families. The quantities of the abnormal hemoglobin in 116 subjects are trimodally distributed: 55% in homozygotes, 31% and 38% in heterozygotes. Both hematological data and the alpha/beta chain biosynthetic ratio are normal in heterozygotes with 31% Hb J and in homozygotes. In contrast, the MCV and MCH as well as the alpha/beta biosynthetic ratio are slightly reduced in heterozygotes with 38% Hb J and in their relatives carrying Hb A. The elevated expression of alphaJ chains in heterozygotes with 38% Hb J may be due to an alpha thalassemia gene trans to the alphaJ locus.
对8个无亲缘关系的阿尔及利亚家庭中的血红蛋白J墨西哥型（一种α链突变体）进行了研究。116名受试者体内异常血红蛋白的含量呈三峰分布：纯合子中占55%，杂合子中分别占31%和38%。血红蛋白含量为31%的Hb J杂合子和纯合子的血液学数据以及α/β链生物合成比率均正常。相比之下，血红蛋白含量为38%的Hb J杂合子及其携带Hb A的亲属中，平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）以及α/β生物合成比率略有降低。血红蛋白含量为38%的Hb J杂合子中αJ链表达升高可能是由于与αJ基因座反式排列的α地中海贫血基因所致。
