Beris P, Huber P, Spierer C L, Miescher P A
Schweiz Med Wochenschr. 1986 Oct 25;116(43):1481-3.
The case is reported of a 24-year-old Chinese patient with congenital hemolytic anemia (Hb 95 g/l, MCV 71 fl, MCHC 29 g%, reticulocytes 165% RBC). Clinical examination revealed jaundice and marked splenomegaly. Isoelectric focusing of Hb and Hb chains showed the absence of HbA, the presence of rapid Bart's and H Hb and the presence of an alpha chain variant alpha Q-Thailand, alpha 74 Asp----His (confirmation by fingerprinting of Hb). In vitro globin chain synthesis in reticulocytes and erythroblasts indicates that this variant is localized in an alpha-thal-2 chromosome. Furthermore, this variant does not exhibit any transcriptional defect of the alpha Q gene or any instability, since its association with a second alpha-thal-1 chromosome leads to a deficit of alpha chain production identical to that observed in Hb H disease (alpha alpha 0/alpha 0 alpha 0).
本文报道了一名24岁的中国先天性溶血性贫血患者（血红蛋白95g/L，平均红细胞体积71fl，平均红细胞血红蛋白浓度29g%，网织红细胞占红细胞的165%）。临床检查发现黄疸和明显脾肿大。血红蛋白及血红蛋白链的等电聚焦显示无血红蛋白A，存在快速移动的巴特氏血红蛋白和H血红蛋白，以及存在一种α链变体αQ - 泰国型，α74天冬氨酸→组氨酸（经血红蛋白指纹图谱确认）。网织红细胞和成红细胞的体外珠蛋白链合成表明该变体定位于α - 地中海贫血2型染色体。此外，该变体未表现出αQ基因的任何转录缺陷或任何不稳定性，因为其与第二条α - 地中海贫血1型染色体相关联时导致的α链生成缺陷与血红蛋白H病（αα0/α0α0）中观察到的相同。
