产前诊断--^(THAI)型相关Hb Bart′s水肿胎的临床研究  

Prenatal diagnosis of Hb Bart′s disease associated with α~0-thalassema Thai type deletion

作　　者：张金云[1] 黄振勇[1] 谭卫荷[1] 张丹[1] 

机构地区：[1]广州医科大学第六临床学院妇产科,广东清远511500

出　　处：《中国优生与遗传杂志》2017年第5期85-86,共2页Chinese Journal of Birth Health & Heredity

基　　金：清远市科学技术计划项目;项目编号:2016B034;项目名称:妊娠期糖尿病专科教育门诊管理模式探讨

摘　　要：目的α珠蛋白--^(THAI)型缺失是一种少见的α地中海贫血(地贫)。本文报道--^(THAI)型相关Hb Bart′s水肿胎的产前诊断经验。方法对怀孕夫妇双方进行α地贫筛查与分子诊断,对生育血红蛋白(Hb)Bart′s水肿胎高风险家庭进行产前诊断。结果共筛查出385例生育Hb Bart′s水肿胎高风险妊娠,包括7例为夫妇一方为--^(THAI)型α地贫、另一方为--^(SEA)型α地贫。经产前诊断,66例Hb Bart′s水肿胎被终止妊娠,其中2例为—^(THAI)复合--^(SEA)型的水肿胎。结论通过产前筛查与产前诊断,可以预防--^(THAI)型相关Hb Bart′s水肿胎的出生。Objective： The Thai type deletion is a less common α-thalassemia. In this study, we report our experience in prevention of Hb Bart＇ s disease associated with α-thalassema Thai type deletion. Methods： All couples at their first obstetric visit were screened for thalassemia trait. When both partners of a couple carried a type of thalassemia causing Hb Bart＇ s disease risk in the progeny, prenatal diagnosis was offered. Results： Totally, 385 couples at risk for Hb Bart＇s disease, including 7 tested positive for SEA deletion in one partner and Thai deletion in the other, were found and different prenatal procedures were offered depending on the gestational age at presentation. Sixty-six affected fetuses were diagnosed prenatally： among these, 2 cases of Hb Bart＇ s disease were discordant for SEA and Thai deletions. Conclusion： With the strategy consisted of carder screening, prenatal diagnosis and termination of pregnancy, the births of Hb Bart＇ s disease infants can be prevented.

关 键 词：Α地中海贫血 --^THAI型缺失 HB Bart's水肿胎 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]