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重度α地中海贫血所致胎儿水肿。

Hydrops fetalis caused by severe alpha-thalassemia.

作者信息

Hsieh F J, Ko T M, Chen H Y

机构信息

Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei.

出版信息

Early Hum Dev. 1992 Jun-Jul;29(1-3):233-6. doi: 10.1016/0378-3782(92)90158-d.

Abstract

Alpha-thalassemia is a prevalent condition in South East Asia and spreading because of increasing immigration. Hemodynamic study of Hb Bart's hydrops fetalis, the most severe form of alpha-thalassemia, showed the fetuses were in a hyperdynamic circulatory state and were also more acidotic, hypoxic, and hypercarvic than normal fetuses. The most common molecular defects of Hb Bart's hydrops fetalis was the Southeast Asia type deletion. Prenatal diagnosis of Hb Bart's hydrops fetalis and HbH diseases has been achieved using chorionic villi sampling or fetal blood sampling.

摘要

α地中海贫血在东南亚是一种普遍的病症,并且由于移民增加而不断蔓延。对α地中海贫血最严重的形式——巴氏水肿胎儿血红蛋白(Hb Bart's)进行的血流动力学研究表明,这些胎儿处于高动力循环状态,并且比正常胎儿更易出现酸中毒、缺氧和高碳酸血症。巴氏水肿胎儿血红蛋白最常见的分子缺陷是东南亚型缺失。已通过绒毛取样或胎儿血液取样实现了对巴氏水肿胎儿血红蛋白和血红蛋白H病(HbH)的产前诊断。

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