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居住在瑞士日内瓦的一名中国人中的HB Q-泰国-HB H病:该变异体的特征及两条α地中海贫血染色体的鉴定

HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes.

作者信息

Beris P, Huber P, Miescher P A, Wilson J B, Kutlar A, Chen S S, Huisman T H

出版信息

Am J Hematol. 1987 Apr;24(4):395-400. doi: 10.1002/ajh.2830240409.

Abstract

Data on a 24-year-old Chinese male with Hb Q-Thailand-Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse-phase high-performance liquid chromatography. Gene mapping analyses identified the alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.

摘要

本文报道了一名患有血红蛋白Q-泰国-血红蛋白H病的24岁中国男性的相关数据。该血红蛋白变异体通过快速微量程序进行鉴定,主要采用反相高效液相色谱法。基因图谱分析确定,与α-Q链相关的α地中海贫血-2是由涉及α2珠蛋白基因的4.2 kb缺失引起的,而α地中海贫血-1异常是常见的东南亚类型,其中部分ψζ、ψα以及α2和α1珠蛋白基因缺失。

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