2171例地中海贫血产前基因诊断回顾性分析

Prenatal Diagnosis of Thalassemia in 2 171 Cases

目的:对广东省妇女儿童医院产前诊断中心1 506例α地中海贫血和665例β地中海贫血产前基因诊断进行回顾性分析。方法:对α地中海贫血产前基因诊断采取裂隙聚合酶链反应(gap-PCR)以及PCR结合反向点杂交(RDB)方法,β地中海贫血产前基因诊断采取PCR结合RDB方法,若夫妇一方携带少见突变则加用DNA测序方法。结果:1 506例α地中海贫血产前基因诊断病例中共检测出262例水肿胎,72例血红蛋白H病。665例β地中海贫血产前基因诊断病例中共检测出174例重型β地中海贫血。结论:地中海贫血产前基因诊断有效减少了水肿胎和重型β地贫患儿的出生,对于优生优育、减少围生期并发症具有重要意义。

Objective：To make a retrospective analysis about 1 506 prenatal diagnosis cases of α-thalassemia and 665 cases of β-thalassemia in the prenatal diagnosis center of women and children hospital of Guangdong Province. Methods： Gap-PCR and polymerase chain reaction-reverse dot blot （PCR-RDB）assay. DNA sequencing was used in the case when unusual mutation was identified in at least one parent. Results ：262 cases of Bart＇s fetuses and 72 cases of Hb H were detected in 1 506 cases of α-thalassemia prenatal diagnosis. Meanwhile, 174 fetuses with complex mutation were final diagnosed from 665 cases of β-thalassemia prenatal diagnosis. Conclusions ：Prenatal diagnosis of thalassemia can effectively reduce the birth of Bart＇s fetuses and seriously β-thalassemia, and it has the vital significance for eugenic birth and decrease of the perinatal complication.