一例罕见的巴氏水肿胎儿血红蛋白病病例。

An unusual case of hemoglobin Bart's hydrops fetalis.

作者信息

Halbrecht I, Shabtai F

出版信息

Acta Genet Med Gemellol (Roma). 1975;24(1-2):97-103. doi: 10.1017/s1120962300021934.

DOI:10.1017/s1120962300021934

Abstract

A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis. That this is a particular expression of hemoglobin H disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.

摘要

一名患有α链地中海贫血胎儿水肿综合征的婴儿，其父母是一对具有伊拉克库尔德血统的伊拉克犹太夫妇。血红蛋白Bart's仅占总血红蛋白的40%，远低于α链地中海贫血胎儿水肿综合征通常的比例。考虑到这是血红蛋白H病的一种特殊表现形式。文中还讨论了该家族中存在两个α链基因座而非一个α链基因座的可能性。