血红蛋白斯坦利维尔II与α地中海贫血和血红蛋白S的关联。
The association of Hb Stanleyville II with alpha thalassemia and Hb S.
作者信息
Costa F F, Zago M A, Sonati M F, Bottura C
机构信息
Department of Clinical Medicine, School of Medicine, Ribeirão Preto, Brazil.
出版信息
Nouv Rev Fr Hematol (1978). 1987;29(6):387-90.
Two unrelated families are described which include two heterozygotes for Hb Stanleyville II, two compound heterozygotes for Hb Stanleyville II and Hb S, and one compound homozygote for the two abnormal hemoglobins. The homozygote did not produce normal alpha chains, the abnormal chains accounted for 32-35% of the total alpha chain of four heterozygotes, and the alpha/non-alpha synthetic ratios were in the range 0.59-0.77. These data demonstrate the presence of an alpha-thalassemia gene linked to the alpha-Stanleyville II mutation.
本文描述了两个无亲缘关系的家族，其中包括两名Hb斯坦利维尔II杂合子、两名Hb斯坦利维尔II和Hb S复合杂合子，以及一名两种异常血红蛋白的复合纯合子。该纯合子不产生正常的α链，异常链占四名杂合子总α链的32%-35%，α/非α合成比率在0.59-0.77范围内。这些数据证明存在一个与α-斯坦利维尔II突变连锁的α地中海贫血基因。
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