血液学分析联合基因诊断在地中海贫血产前诊断中的应用  

Application of hematology analysis combined with genetic diagnosis in prenatal diagnosis of thalassemia

作　　者：吴杰[1] 曾海燕[1] 

机构地区：[1]广东省梅州市人民医院检验科,广东梅州514031

出　　处：《国际检验医学杂志》2015年第5期604-605,607,共3页International Journal of Laboratory Medicine

摘　　要：目的评估血液学分析联合基因诊断在地中海贫血(简称地贫)产前诊断中的应用价值。方法 2010年7月至2013年4月该院2 368例产妇在产前诊断中心进行地贫产前诊断,血液学筛查阳性的产妇进行基因诊断。结果经血液学分析结果显示,血红蛋白A2(HbA2)异常产妇124例,将异常产妇的血液学结果与其余健康产妇结果比较差异有统计学意义(P<0.01);124例血液学表型阳性孕妇中,夫妻同基因型16例,这16例孕妇中15例孕妇行地贫产前诊断,7例为α基因型,2例为β基因型,6例正常基因型;另外这15例孕妇中有3例为重度地贫胎儿,包括2例α地贫(--SEA/--SEA基因型)、1例β地贫(41-42/IVS-Ⅱ-654基因型),均告知患者后终止妊娠。结论血液学分析结合基因诊断对构建完善的地贫产前检查与产前诊断干预模式有重要作用,值得推广应用。Objective To evaluate the application value of the hematology analysis combined with genetic diagnosis in the prenatal diagnosis of thalassemia.Methods 2 368 parturients were performed the prenatal diagnosis of thalassemia in the prenatal diagnosis center of our hospital from July 2010 to April 2013,and those with positive hematological screening detection were performed the genetic diagnosis.Results The hematology analysis results showed 124 parturients of abnormal HbA2.The hematology analysis results in the abnormal parturients had the statistical difference compared with those in the rest healthy parturients（P〈0.01）.Among 124 pregnant women of hematological positive phenotype,there were 16 couples with the same genotype,in these 16 pregnant women,15 cases were performed the prenatal diagnosis of thalassemia,there were 7cases ofαthalassemia gene,2cases ofβgenotype,6cases of normal genotype,3cases of severe fetal thalassemia,including 2cases ofα-thalassemia（genotype^--SEA/--SEA）,1case ofβ-thalassemia（genotype 41-42/IVS-Ⅱ-654）.All pregnant women terminated pregnancy after informing the patients.Conclusion The hematology analysis combined with genetic diagnosis plays an important role in the construction of perfect thalassemia prenatal detection and diagnosis intervention mode,and is worthy of popularization and application.

关 键 词：基因诊断 地中海贫血 产前诊断 

分 类 号：R714.254[医药卫生—妇产科学] R446.1[医药卫生—临床医学]