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β地中海贫血携带者中α地中海贫血的检测及通过产前筛查预防巴氏水肿胎儿

Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening.

作者信息

Li Dongzhi, Liao Can, Li Jian, Xie Xingmei, Huang Yining, Zhong Huizhu

机构信息

Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, China.

出版信息

Haematologica. 2006 May;91(5):649-51.

Abstract

The aim of this study was to detect alpha-thalassemia in beta-thalassemia carriers during prenatal screening. During a 12-year prenatal screening program, a total of 158 couples (3.2%) were diagnosed to be the discordant alpha- and beta-thalassemia carriers. Of the 158 beta-thalassemia partners, seven (4.4%) were found to have co-inheritance of alpha0-thalassemia, and three (1.9%) found to have co-inheritance of alpha(+)-thalassemia. Three pregnancies affected with Hb Bart's hydrops fetalis were terminated in the 158 couples. The results showed that molecular analysis must be used for accurate diagnosis of double heterozygotes in couples presumed to be discordant for alpha- and beta-thalassemia on hematologic testing.

摘要

本研究的目的是在产前筛查期间检测β地中海贫血携带者中的α地中海贫血。在一项为期12年的产前筛查项目中,共有158对夫妇(3.2%)被诊断为α和β地中海贫血的不一致携带者。在这158名β地中海贫血携带者中,有7名(4.4%)被发现同时遗传了α0地中海贫血,3名(1.9%)被发现同时遗传了α(+)地中海贫血。在这158对夫妇中,有3例受Hb Bart水肿胎儿影响的妊娠被终止。结果表明,对于血液学检测中被认为α和β地中海贫血不一致的夫妇,必须使用分子分析来准确诊断双杂合子。

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