地中海贫血基因诊断在优生优育中的应用情况分析

The Application Analysis of the Eugenics in the Gene Diagnosis of Thalassemia

目的探讨地中海贫血基因诊断对优生优育的应用指导作用。方法回顾性统计分析广州市番禺区何贤纪念医院2011年1月至2014年12月期间的5 086例产检孕妇中109例疑似地中海贫血患者基因诊断筛查结果。结果 5 086例产检孕妇中74例确诊为地中海贫血,占1.45%,其中α地中海贫血患者32例,占0.63%,以αα/--SEA最为常见,占65.63%;β地中海贫血患者42例,占0.82%,以CD17(A→T)最为常见,占38.10%。结论本地区常见地中海贫血基因突变类型的筛查有利于指导产前诊断,减少Hb Bart'水肿综合症和Hb H病患儿的出生,从而实现优生优育。

Objective To evaluate the guiding role for the birth of the genetic diagnosis of thalassemia.Methods A retrospective analysis of 5 086 cases of pregnant women in our hospital from January 2011 to December 2014, 109 cases of patients with suspected cases of genetic diagnosis and screening of patients with suspected cases of Mediterranean anemia.Results 5 086 cases of property seized pregnant women in 74 patients with Mediterranean anemia, 1.45%, where alpha Mediterranean anemia patients 32 cases, 0.63%, is most common in the alpha, alpha /--SEA , accounting for 65.63%; beta thalassemia patients 42 cases, accounting for 0.82%, with CD17 ( A, T) is most common, accounting for 38.10%.Conclusion Local common thalassemia gene mutation types of screening is to guide the prenatal diagnosis, reduce HB Bart'edema syndrome and HbH disease in children with birth, in order to achieve prenatal and postnatal care.