一个血红蛋白温哥华家系的临床与血液学研究。
Clinical and hematological studies in a family with hemoglobin Vancouver.
作者信息
Gray F R, Marion R B
出版信息
Hemoglobin. 1978;2(2):143-52. doi: 10.3109/03630267809074781.
PMID:640852
Abstract
Hb Vancouver (alpha2beta2 73 (E17) ASP yieldTYR) was found in combination with betaomicron thalassemia trait in a Chinese male who presented with splenomegaly and thalassemia intermedia (3). The family study has revealed two members with beta thalassemia trait, one heterozygote for Hb E, and two heterozygotes for Hb Vancouver. The Hb Vancouver heterozygotes were clinically normal but their erythrocytes showed reduced osmotic fragility and occasional target cells.
摘要
在一名患有脾肿大和中间型地中海贫血的中国男性中，发现血红蛋白温哥华（α2β2 73（E17）天冬氨酸突变为酪氨酸）与β地中海贫血特征共存（3）。家族研究显示，有两名成员患有β地中海贫血特征，一名为血红蛋白E杂合子，两名是血红蛋白温哥华杂合子。血红蛋白温哥华杂合子临床症状正常，但其红细胞渗透脆性降低，偶尔出现靶形细胞。
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