2 171例地中海贫血产前基因诊断回顾性分析

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。

Prenatal Diagnosis of Thalassemia in 2 171 Cases

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.