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两个α-珠蛋白基因缺失对纯合β0-地中海贫血的影响。

Influence of two alpha-globin gene deletions on homozygous beta 0-thalassemia.

作者信息

Lie-Injo L E, Duraisamy G, Vasudevan S

出版信息

Hemoglobin. 1982;6(2):115-29. doi: 10.3109/03630268209002288.

Abstract

The favorable influence of alpha-thalassemia due to a deletion of two alpha-globin genes (alpha-thal-l) on homozygous beta 0-thalassemia in an adult Chinese woman is described. Her clinical and hematologic condition was milder than usually seen in homozygous beta 0-thalassemia. With the help of repeated blood transfusions immediately before delivery she gave birth to a physically healthy baby who had the alpha-thal-l trait due to two alpha-globin gene deletions with Hb Bart's in the cord blood.

摘要

本文描述了一名成年中国女性因两个α-珠蛋白基因缺失(α-地中海贫血1型)导致的α-地中海贫血对纯合β0-地中海贫血的有利影响。她的临床和血液学状况比纯合β0-地中海贫血患者通常所见的情况要轻。在临产前反复输血的帮助下,她生下了一个身体健康的婴儿,该婴儿因两个α-珠蛋白基因缺失而具有α-地中海贫血1型特征,脐带血中有血红蛋白Bart's。

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