干血片毛细血管电泳技术在新生儿α-地贫筛查中的应用

Application of Dry Blood Capillary Electrophoresis in Screening of Neonatalα-Poverty

目的:评价干血片毛细血管电泳技术对新生儿α-地中海贫血筛查的临床价值。方法:选取2018年1月~2019年12月阳江市妇幼保健院及阳江市各助产机构送检的新生儿滤纸干血片标本23769例,采用毛细血管电泳技术检测标本中Hb Bart's水平,分析α-地贫筛查阳性率、基因符合率,并探究α-地贫临床表现类型与Hb Bart's水平的关系。结果:23769例滤纸干血片标本中检出Hb Bart's阳性2825例,阳性率为11.89%;召回初筛阳性1068例,确诊阳性998例,确诊符合率为93.45%,其中静止型338例,标准型635例,中间型25例,重型0例,以基因型-SEA/αα最为常见。不同临床表型患儿Hb Bart's水平比较,差异具有统计学意义(P<0.05);其中中间型患儿Hb Bart's水平高于标准型和静止型,且标准型患儿Hb Bart's水平高于静止型(P<0.05)。结论:利用干血片毛细血管电泳技术定量分析Hb Bart's水平,对新生儿α-地中海贫血的筛查准确性高。

Objective:To evaluate the clinical value of dry blood capillary electrophoresis in screening of neonatalα-thalassemia.Methods:23769 cases of neonatal filter paper dry blood samples in a hospital from January 2018 to December 2019 were selected,the level of Hb Bart's in the samples was detected by capillary electrophoresis,the positive rate and gene coincidence rate ofα-thalassemia screening were analyzed,and the relationship between clinical manifestations ofα-thalassemia and Hb Bart's level was explored.Results:2825 cases of Hb Bart's positive were detected in 23769 cases of filter paper dry blood samples,and the positive rate was 11.89%;1068 cases were positive in recall primary screening,998 cases were confirmed positive,and the diagnosis coincidence rate was 93.45%.Among them,338 cases were static type,635 cases were standard type,25 cases were intermediate type,0 case was severe type,and the genotypes-SEA/ααwas the most common.The difference of Hb Bart′s levels of children with different clinical phenotypes was statistically significant(P<0.05).The level of Hb Bart's in intermediate type was higher than that in standard type and static type,and the level of Hb Bart's in standard type was higher than that in static type(P<0.05).Conclusion:Dry blood capillary electrophoresis can be used to quantitatively analyze the level of Hb Bart's,which has high accuracy in screening neonatalα-thalassemia.