佛山市城区6年婚前筛查地中海贫血结果调查

Result of 6-years Pre-marriage Examination for Thalas-sanemia in Foshan City.

为评估婚前检查对预防地中海贫血(简称地贫)的作用。对1991年5月1日～1997年4月30日在佛山市城区各医院进行婚前检查的男女常规作地贫筛查,对地贫高危婚配的夫妇,劝其进行婚前咨询和(或)产前诊断。系统检查27 288例(53.8％),拟诊 a地贫携带者 704例(2.57％),β地贫携带者509例(1.86％),血红蛋白H病4例(0. 15‰),血红蛋白E病1例(0.4％。)。a地贫高危婚配20对(0.14％),β地贫高危婚配4对(0.03％)。产前诊断重型地贫高危胎儿15例,其中诊断正常胎儿3例,α地贫特征6例,Hb Bart’s水肿胎儿4例,β地贫特征1例,重型β地贫胎儿1例。结论:婚前检查是早期发现地贫高危婚配夫妇的最简单方法,对高危婚配夫妇进行婚前咨询和产前诊断,能及早发现重型地贫胎儿,杜绝患儿的出生。这些措施的推广应用,对优生优育有着重要的现实意义。

Aim: To evaluate the significance of pre-marriage screen on extinguishing thalassanemia through 6-years regional pre-marriage examination in Foshan City, Guangdong province. China. Method: Pre-marriage screen of couples on thalassanemia took place routinely in every pre-marriage exam station of this region from May 1,1991 to April 30 1997. For high risk couples, pre-marriage consulting and prenatal diagnosis are recommended. Result; Among 27288 women screened,704 caces(2.5% ) were diagnosed as α-thal carrier, and 509 cases( 1.86% ) were diagnosed as β-thal trait,4 cases Hb H disease (0.15%c),1 cases Hb E disease(0. 4%c).20(0.14%)and 4(0.03%) couples were of α-thal and β-thal high risk respectively. 15 cases of them underwent prenatal diagnosis, in which 3 were of normal fetus,6 of a-thal carrier fetus, 4 Hb Bart's hydrops fetalis syndrome, 1 of β-thal trait fetus, 1 of β-thal major fetus. Conclusion; Pre-marriage screen is the simplest way in early diagnosis of high-risk thal couples. Pre-marriage consulting and prenatal diagnosis can prevent thal major fetus from coming out. It places an important role in promoting fetus quality.