Liang S, Tang Z, Su C, Lung Q, Liang R, Fei Y J, Kutlar F, Wilson J B, Webber B B, Hu H
Guangxi Medical College, P.R. China.
Hemoglobin. 1988;12(1):13-21. doi: 10.3109/03630268808996878.
Detailed data are presented concerning the relative amounts of Hb A and two alpha chain variants (Hb Duan with alpha 75 Asp----Ala, and Hb Westmead with alpha 122 His----Gln), and the occurrence of an alpha-thalassemia-2 heterozygosity in five members of a small Chinese family. The three children who have the three abnormalities inherited the alpha-Duan and alpha-thalassemia-2 heterozygosities from their father, and the alpha-Westmead heterozygosity from their mother. The base substitution which leads to the synthesis of the alpha-Duan chain occurred at codon 75 of the alpha 1 globin gene of the chromosome which also carried the alpha-thalassemia-2 deletion; the concentration of alpha-Duan (37% of total alpha) is similar to that observed for other alpha chain variants, linked to an alpha-thalassemia-2 condition.
文中详细给出了关于Hb A以及两种α链变体（α75天冬氨酸突变为丙氨酸的Hb Duan和α122组氨酸突变为谷氨酰胺的Hb Westmead）的相对含量，以及一个中国小家庭中五名成员出现α地中海贫血-2杂合性的情况。三名患有这三种异常情况的儿童从父亲那里继承了α-Duan和α地中海贫血-2杂合性，从母亲那里继承了α-Westmead杂合性。导致α-Duan链合成的碱基替换发生在携带α地中海贫血-2缺失的染色体上α1珠蛋白基因的第75密码子处；α-Duan的浓度（占α链总量的37%）与其他与α地中海贫血-2情况相关的α链变体所观察到的浓度相似。
