新生儿脐血α-地中海贫血早期筛查与应用价值

目的了解横县α-地中海贫血基因携带率的情况。方法采用全自动血红蛋白电泳仪对新生儿脐带血进行Hb电泳,染色后用扫描仪进行Hb Bart＇s定性、定量分析。结果在4063份脐血中,检出Hb Bart＇s（≥现1.0%）757例,检出率为18.63%,其中Hb Bart＇s值为1.0%～5.0%者为349例,在5.1%～15%者为369例,15.1%～40%者为33例。80%～90%者即Hb Bart＇s水肿综合征6例。检出α-地中海贫血静止型、标准型、HbH基因携带及Hb Bart＇s水肿综合征检出率分别为8.59%、9.08%、0.81%、0.15%。结论横县α-地中海贫血基因携带率高;脐血血红蛋白电泳对新生儿α-地中海贫血早期筛查和诊断是一种简便、快捷、及时、准确、有效的方法。可以指导合理婚配、达到杜绝重型地贫儿出生,对优生优育,提高人口素质具有重要意义。

Early examination of α-thalassemia from neonatal cord blood and its application value.

Objective： To have a full-scale knowledge of α-thalassemia gene carrying rate in Hengxian Town.Methods： HB electrophoresis carried out on the neonatal cord blood using full-automatic Hemoglobin electrophoresis meter,observe Hb Bart＇s with the scanner,and then apply the quantitative and qualitative analysis.Results： Among 4063 neonatal cord blood samples,757 samples were detected to have Hb Bart＇s,covered 18.63%,including 8.59% silent type（349 cases）,9.08% standard type（369 cases）,0.81% middle type（33 cases） and 0.15% serious type（6 cases） respectively.Conclusions： The results showed that α-thalassemia carrier rate was high in Heng xian Town.And Hemoglobin electrophoresis on neonatal cord blood is a simple,quick,accurate and effective guidance for early examination of α-thalassemia.Based on this method,it will help us to better choose our marriage,reduce the birth of serious α-thalassemia carrier baby.It will also play very important role in improving prenatal and postnatal care,improving population quality.