一个患有血红蛋白P加尔维斯顿β117His突变为精氨酸的瑞士家族，其中包括两名血红蛋白P/β地中海贫血患者。
A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.
作者信息
Di Iorio E E, Winterhalter K H, Wilson K, Rosenmund A, Marti H R
出版信息
Blut. 1975 Aug;31(2):61-8. doi: 10.1007/BF01633721.
PMID:1164567
Abstract
The mutant Hb P Galveston (beta117His leads to Arg) is observed in two heterozygotes for beta thalassemia and by itself does not cause clinical symptoms. Some of the physico-chemical properties of Hb P Galveston are identical to the onemical properties of Hb P Galveston are identical to the ones hemoglobin Zurich (beta 63 His leads to Arg) so that only a detailed analysis led to its proper identification.
摘要
在两名β地中海贫血杂合子中观察到突变型血红蛋白P加尔维斯顿（β117位组氨酸突变为精氨酸），其本身不会引起临床症状。血红蛋白P加尔维斯顿的一些物理化学性质与血红蛋白苏黎世（β63位组氨酸突变为精氨酸）相同，因此只有通过详细分析才能对其进行准确鉴定。
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