百色地区孕妇地中海贫血的产前筛查及产前诊断

Prenatal screening and fetal diagnosis of thalassemia.

目的为预防和控制广西百色市地中海贫血重症患儿的出生,对产前检查的孕妇进行地中海贫血的筛查及基因突变分析,对高风险的胎儿进行产前诊断。方法采用红细胞平均体积、红细胞脆性试验及血红蛋白电泳三项联合测定对1840例孕妇进行地中海贫血的筛查。结果检出地中海贫血334例,发生率18.15%,其中α地中海贫血210例,发生率为11.41%,β地中海贫血124例,发生率6.74%。270例确定了基因型,对22对夫妇均为地贫携带者的胎儿进行产前诊断,6例为正常胎儿,4例为a杂合子,1例为H b H病、3例为Bart′s水肿;1例β地贫纯合子,3例为β地中海贫血双重杂合子,4例为β地中海贫血杂合子。结论通过产前筛查地中海贫血及基因诊断,确诊了重症患儿并及时终止妊娠,有效避免重症患儿的出生,提高人口素质具有重要意义。

In order to prevent and control the birthrates of thalassemia in Baise area, Guangxi province, this paper aims to investigate the incidence of the disease among the pregnant and to perform diagnosis in high risk fetus. Methods ： Use MCV, RCOF and Hb to screen the thalassemia with 1840 pregnant women. Results： 334 thalassemia （18. 16% ） were identified among the total cases. 210 cases were with a - thalassemia （11.41% ） and 124 cases were with 15 - thalassemia （6.75%）. 270 positive DNA samples were genotyped. 22 carrier couples were detected for thalassemia and the fetuses were subjected prenatal diagnosis： 6 were normal, 4 a - thalassemia with heterozygotes, 2 HbH, 3 Bart＇s edema, 115 - thalassemia homozygote, 415 - thalassemia double with heterozygotes and 315 - thalasse mia with heterozygotes. Conclusion： Neonates with major thalassemia can be clarified and even avoided by screening the incidence and types of genic mutations. Thus the usage of this method is effective to avoid the birth of neonates and is vital to improve the quality of human being .