胎儿脐带血血红蛋白分析在珠蛋白生成障碍性贫血产前诊断中的应用价值

Application value of fetal umbilical cord blood hemoglobin analysis in prenatal diagnosis of thalassemia

目的探讨胎儿脐带血血红蛋白分析在珠蛋白生成障碍性贫血（又称地中海贫血）产前诊断中的应用价值。方法收集夫妻双方均为相同基因类型地中海贫血携带者113对,且女性处于妊娠期,孕24-30周,进行产前诊断。应用全自动毛细管电泳技术分析胎儿脐带血血红蛋白成分,同时检测胎儿地中海贫血基因。结果 113对夫妻所孕育的113例胎儿中,11例重型α地中海贫血胎儿脐带血HbBart′s水平为85.0%-95.5%,9例中间型α地中海贫血胎儿脐带血HbBart′s达22.0%-39.5%;6例重型β地中海贫血胎儿脐带血HbA水平为0%-0.4%,17例轻型β地中海贫血胎儿脐带血HbA水平为2.1%-12.5%。结论胎儿脐带血血红蛋白分析能快速产前诊断重型α、重型β和中间型α地中海贫血,可作为地中海贫血产前诊断的辅助方法。

Objective To investigate the application value of fetal umbilical cord blood hemoglobin analysis in the prenatal diag- nosis of thalassemia. Methods 113 couples were the carriers of the same gene type of thalassemia,moreover the females were in the pregnant period of 24-30 pregnant weeks and performed the prenatal diagnosis. The fetal umbilical cord blood hemoglobin compo- nents were analyzed by the full automatic capillary electrophoresis technique, meanwhile the fetal thalassemia gene was detected. Resuits Among 113 fetuses,the umbilical cord blood HbBart＇s level in 11 cases of severe a thalassemia was 85.0%- 95.5%, which in 9 cases of intermediate type a thalassemia was 22.0- 39.5% ;the umbilical cord blood HbA level in 6 cases of severe β thalas- semia was 0%-0.4%, which in 17 cases of light type β thalassemia was 2.1%- 12.5%. Conclusion The fetal umbilical cord blood hemoglobin analysis could be used for rapid prenatal diagnosis of severe α,β and intermediate type a thalassemia,which can serve as a supplementary method for the prenatal diagnosis of thalassemia.