【摘要】 目的　调查深圳市孕妇地中海贫血发病率、基因突变类型 ,对高风险胎儿进行产前诊断。方法　 1998年 1月至 2 0 0 2年 12月采用二步法对产前检查的 4 136例孕妇进行地中海贫血筛查。结果　检出地中海贫血阳性病例 2 97例 ,发病率 7 18% ,其中α地中海贫血阳性病例 172例 ,发病率 4 16 % ;β地中海贫血阳性病例 12 5例 ,发病率 3 0 2 %。 2 2 9例被确定了基因型。对 19对夫妇均为地中海贫血携带者胎儿进行产前基因诊断 ,确定正常胎儿 3例 ,α1地中海贫血杂合子 4例 ,β地中海贫血杂合子 8例 ,Bart’s水肿胎儿 2例 ,β地中海贫血双重杂合子 2例。结论　通过产前筛查地中海贫血 ,确诊重症患儿及时终止妊娠 ,可有效地避免重症患儿的出生更多还原

【Abstract】 Objective To investigate the incidence and types of genic mutations for thalassemia in Shenzhen area and perform the prenatal diagnosis in high risk fetus.Methods During January 1998 ～ December 2002,an antenatal screening program was conducted in 4136 pregnant women of Shenzhen area by a method of two steps.Results 297 thalassemia(7\^18%) were identified among the total cases.172 cases were with α thalassemia (4 16%) and 125 cases with β thalassemia(3 02%).229 positive DNA samples were genotyped.19 carrier couples were detected for thalassemia and the fetuses were subjected to prenatal diagnosis:3 were normal,4 α thalassemia with heterozygotes,8 β thalassemia with heterozygotes,2 Bart’s edema and 2 β thalassemia with double heterozygotes.Conclusion The incidence and types of genic mutations for thalassemia in pregnant women of Shenzhen area are clarified.The birth of neonates with major thalassemia can be avoided.更多还原