滤纸干血片毛细管电泳技术在新生儿β-地贫筛查中的应用探讨

Application of Filter Paper Dry Blood Capillary Electrophoresis in Neonatal β-thalassemia Screening

目的探讨滤纸干血片毛细管电泳技术在新生儿β-地中海贫血(简称β-地贫)筛查中的应用价值。方法采集2018年1月至2019年12月阳江市妇幼保健院及阳江市各助产机构送检的23769份新生儿足跟血标本,使用滤纸干血片毛细管电泳技术检测血红蛋白(Hb)电泳,对初筛阳性病例召回进行进一步基因分析。结果对23769份新生儿滤纸干血片标本进行检测,Hb-A界值法筛查出976例β-地贫基因携带者,初筛阳性率4.12%,召回338例,基因阳性例数144例,符合率42.60%(144/338);综合分析法初筛阳性数957例,阳性率4.03%,召回308例,基因阳性例数214例,符合率69.48%(214/308),综合分析法对β-地贫阳性基因筛查的符合率较界值法显著高(P<0.05);进一步分析临床分型与Hb-A含量的关系,结果显示,不同表型的Hb-A含量差异显著(P<0.05),重度β-地贫的Hb-A含量较β-地贫基因携带者显著低,差异有统计学意义(P<0.05)。结论新生儿滤纸干血片标本经毛血管电泳技术测定后,通过综合分析法判读电泳结果可提高新生儿β-地贫的检出率,并且可根据Hb-A含量判断β-地贫的严重程度,对β-地贫的早期筛查和预防有较高的临床价值。

Objective To investigate the application value of filter paper dry blood capillary electrophoresis in screening of neonatalβ-thalassemia.Methods 23769 neonatal heel blood samples were collected from January 2018 to December 2019 from Yangjiang maternal and child health care hospital and various midwifery institutions in Yangjiang City.Hemoglobin(HB)electrophoresis was detected by capillary electrophoresis with filter paper dry blood piece,and further genetic analysis was carried out for the recall of the first screened positive cases.Results 23769 samples of neonatal filter paper dry blood samples were tested.976 cases ofβ-thalassemia gene carriers were screened by the method of HB a cut-off value.The positive rate of initial screening was 4.12%,338 cases were recalled,144 cases were gene positive,and the coincidence rate was 42.60%(144/338).957 cases were initially screened by comprehensive analysis,the positive rate was 4.03%,308 cases were recalled,214 cases were gene positive,and the coincidence rate was 69.48%(214/308)The coincidence rate of positive gene screening ofβ-thalassemia was significantly higher(P<0.05).The relationship between clinical classification and Hb-A content was further analyzed.The results showed that there were significant differences in the content of Hb-AS among different phenotypes(P<0.05),and the content of Hb-AS in severeβ-thalassemia was significantly lower than that in the carriers ofβ-thalassemia gene(P<0.05).Conclusion The detection rate of neonatalβ-thalassemia can be improved by comprehensive analysis after the capillary electrophoresis of neonatal filter paper dry blood specimen is determined,and the severity ofβ-thalassemia can be judged according to the content of Hb,which has high clinical value for early screening and prevention ofβ-thalassemia.