目的：探讨胎儿脐血血红蛋白电泳Hb A值在孕中、晚期诊断β-地中海贫血以及母血污染鉴定的应用价值。方法收集父母双方为β-地中海贫血携带者作为指征进行产前诊断且孕周为24～28 w的胎儿54例。应用全自动毛细管电泳系统对胎儿脐带血进行电泳分析，且采用反向点杂交法检测β地中海贫血基因。结果12例β-地中海贫血基因型正常的胎儿脐带血 Hb A 的平均值为（6.3％±1.9％）；31例β杂合突变的 Hb A 值范围为2.6％～3.7％；10例基因纯合突变或双重杂合突变中有6例胎血 Hb A 为0，4例为0.4％～0.7％；母血污染1例。结论脐血血红蛋白电泳Hb A值可辅助诊断轻型、中间型及重型胎儿β-地中海贫血，并可以作为母血污染鉴定的一种方法。%Objective To investigate the performance of Hb A in the prediction of prenatal diagnosising of foetal β-thalassemia and the application of hemoglobin electrophoresis in the second and third trimester of gestation in detecting for ma-ternal blood pollution.Methods In 54 cases there were prior screening for β-globin defects by High risk pregnancies ofβ-thalassemia.The core blood samples which were collecting in the second and third trimester of gestation ( between 24~28 w) were performed for the prenatal diagnosis with Hemoglobin electrophoresis and genetic testing.Results The Hb A in 12 normal cases and 31 mild β-thalassemia cases were observed in (6.3%±1.9%) and 2.6%~3.7%, respectively.10 cases of β0 -thalassemia included Hb A were 0 (n=6), Hb A were 0.4%~0.7% (n=4).Besides, one case were sus-pected as maternal cell contamination.Conclusion The Hb A of hemoglobin electrophoresis was an effective marker to pre-dict the β0 -thalassemia, mild β-thalassemia and β-thalassemia intermedia for fetuses.This study has also confirmed that hemoglobin electrophoresis was definitely helpful in detecting for maternal cell contamination.
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