脐带血血红蛋白电泳联合基因检测β-珠蛋白生成障碍性贫血的诊断价值  

The value of combined tests of hemoglobin electrophoresis and genetic testing in neonatal cord blood screening for β-thalassemia

作　　者：林丽[1] 陈秋莉[1] 韦媛[1] 陈碧艳[1] 王梁[1] 何升[1] 

机构地区：[1]广西壮族自治区妇幼保健院妇产医院遗传代谢中心实验室,南宁530003

出　　处：《国际检验医学杂志》2016年第19期2689-2691,共3页International Journal of Laboratory Medicine

摘　　要：目的探讨脐带血血红蛋白(Hb)电泳在早期辅助诊断β-珠蛋白生成障碍性贫血的临床价值。方法共收集南宁地区父母双方均为珠蛋白生成障碍性贫血携带者产前诊断的胎儿脐带血1 599例,所有标本均确诊。采用Sebia全自动毛细管电泳系统对脐带血进行Hb电泳组分检测。结果共检出β-珠蛋白生成障碍性贫血携带者186例,其中重型68例。使用ROC曲线分析Hb A值对β-珠蛋白生成障碍性贫血携带者和中重型的诊断结果,携带者最佳截断值为5.15%,敏感性83.9%,特异性82.3%;中重型者最佳截断值为3.2%,敏感性100.0%,特异性99.4%。结论脐带血Hb A值可有效辅助诊断β-珠蛋白生成障碍性贫血。Objective To explore the clinic utility of Hb A level in neonatal cord blood screening forβ-thalassemia.Methods A total of 1 599 neonatal cord specimens whose parents were carriers ofβ-thalassemia prenatal diagnosised by routine molecular genetic were collected by cordocentesis.These samples were analyzed by the capillary electrophoresis system（Sebia）.Results Among1 599 fetuses,186 were diagnosed asβ-thalassemia carriers,68 wereβ-thalasseima intermedia/major.ROC analysis demonstrated that the optimal cutoff value for identifyingβ-thalassemia carrier from the Hb A level was 5.15%（sensitivity =83.9%,specificity=82.3%）,and that was 3.2% forβ-thalasseima intermedia/major（sensitivity=100.0%,specificity=99.4%）.Conclusion The Hb A level of cord blood was an effective marker to screen theβ-thalassemia for fetuses and is therefore well-suited for clinical diagnostic use.

关 键 词：脐带血 血红蛋白电泳 产前诊断 珠蛋白生成障碍性贫血 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]