全自动毛细管电泳仪在新生儿α珠蛋白生成障碍性贫血筛查中的应用

Application of full automated capillary electrophoresis system in the analysis of neonatal alpha thalassemia

目的探讨全自动毛细管电泳仪在新生儿α珠蛋白生成障碍性贫血筛查中的应用价值。方法使用全自动毛细管电泳仪对45863例新生儿脐血标本进行血红蛋白(Hb)电泳分析,检测HbA、HbF、HbA2和异常Hb的含量,对筛查表型阳性的病例召回进行基因分析。结果 45863例新生儿脐血标本中检测出巴特血红蛋白(HbBart′s)阳性者2964例,筛查阳性率6.46%(2964/45863);召回其中1278例行基因分析,1173例确诊为α珠蛋白基因缺失,符合率91.8%。确诊病例以标准型为主,占64.4%;基因分型以--SEA/αα最为常见。静止型的HbBart′s含量95%置信区间为0.13%～0.97%,标准型HbBart′s含量95%置信区间为1.28%～5.92%,HbH病HbBart′s含量95%置信区间为8.32%～30.28%,HbBart′s水肿胎HbBart′s含量高于80%。结论全自动毛细管电泳分析技术与基因分析有良好的一致性,根据HbBart′s含量的多少可初步进行α珠蛋白生成障碍性贫血的临床分型。

Objective To assess capillary electrophoresis system in the analysis of neonatal alpha thalassemia.Methods Using automatic capillary electrophoresis instrument to analyze 45 863cases of neonatal cord hemoglobin（Hb） electrophoresis to detect HbA,HbF,HbA2and abnormal Hb content,and the positive phenotypes cases were recalled for genetic analysis.Results Among all 45 863cases of neonatal cord specimens,6.46%（2 964 /45 863） were with Hb Bart’s.1 278positive cases were recalled for gene detection,among which 1 173patients were alpha globin gene deletion,with coincidence rate 91.8%.Most confirmed cases were standard type,about 64.5%,and genotyping of--SEA /ααwas the most common.The 95%range of Hb Bart’s content in static type was 0.13%-0.97%,in standard type was 1.28%-5.92%and in HbH disease was 8.32%-30.28%.In Hb Bart’s fetal edema,the content of Hb Bart’s was more than 80%.Conclusion Automatic capillary electrophoresis might be with great consistence with gene analysis.Alpha thalassemia could be preliminarily typed according to the Hb Bart’s content.