胎血HbA定量分析诊断β地中海贫血的价值  

Analysis of fetal blood HbA level in prenatal diagnosis of β-thalassemia

作　　者：钟惠珠[1] 李坚[1] 魏佳雪[1] 廖灿[1] 钟燕芳[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,广州510180

出　　处：《中国生育健康杂志》2003年第5期286-288,共3页Chinese Journal of Reproductive Health

摘　　要：目的　探讨胎儿脐血 Hb A定量在孕中、晚期诊断 β地中海贫血 (β地贫 )的价值。　方法　应用全自动电泳分析系统对 75例胎儿脐血行血红蛋白 (Hb)电泳并作 Hb A定量分析 ;用反向点杂交 (RDB)法检测 β地中海贫血基因 DNA为诊断的金标准。　结果　电泳法对重型、中间型β地贫及 Hb E的检出灵敏度、特异度和符合率较高 ,误诊率及漏诊率为 0 ,而对轻型 β地贫及其他类型的检出灵敏度、特异度及符合率较低 ,误诊率、漏诊率较高。　结论　胎儿脐血 Hb A定量结合家系史可实现生化水平上对孕中晚期胎儿 β地中海贫血的初步诊断 ,反向点杂交法结合 Hb A定量分析有利于提高 β地贫的诊断准确率。Objectives To investigate the value of fetal blood HbA level in prenatal diagnosis of β-thalassemia in the second and third trimester. Methods The reverse dot blot technique was employed in the present study for characterization of mutation in 75 fetal umbilical cord blood samples (at least one of parental affected by β thalassemia).Quantitative analysis of fetal blood Hb was performed by electrophoresis using the Automated Analyzer spife combo (Helena Loboratories,U.S.A). Results 20 out 75 were homozygous for β-thalassemia,28 of 75 were β-thalassmia genotype and 2 with HbE grnotype.There was no significant difference between the two methods of Hb electrophoresis and reverse dot blot for accurate diagnosis of β thalassemia. Conclusion Combine Hb electrophoresis with reverse dot blot analysis can provide accurate methods for diagnosis of fetal β thalassemia among second and third trimister in β thalassemia familie.

关 键 词：Β地中海贫血 胎儿脐血 HbA定量 产前诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]