毛细管电泳HbA+HbA2/HbA初筛联合血液学指标RDW筛查诊断新生儿β-地中海贫血的价值分析

Value of capillary electrophoresis with HbA+HbA2/HbA preliminary screening combined with RDW hematological index screening in the diagnosis of neonatalβ-thalassemia

目的分析毛细管电泳HbA+HbA2/HbA联合RDW诊断新生儿β-地中海贫血的价值。方法选取2021年1月至2023年12月在我院分娩的2009例新生儿进行毛细管电泳、血液学指标及基因检查筛查β-地中海贫血,描述β-地中海贫血基因类型分布情况,比较非β-地中海贫血组与β-地中海贫血组的毛细管电泳HbA、HbA2/HbA指标、血液学指标,分析筛检效能。结果基因检测β-地中海贫血阳性新生儿12例,总体检出率为0.60%,其中β-地中海贫血单纯杂合突变11例(91.67%),β-地中海贫血复合杂合突变1例(8.33%),以β(CD41-42)、β(IVS-Ⅱ-654)突变常见,分别占16.67%、16.67%。β-地中海贫血组新生儿HbA指标水平显著低于非β-地中海贫血组(P<0.05),β-地中海贫血组新生儿HbA2/HbA指标水平为(2.01±0.10)%,而非β-地中海贫血组新生儿未检测出HbA2。非β-地中海贫血组与β-地中海贫血组的MCV、MCH、MCHC、RBC、Hb水平比较,差异均无统计学意义(均P>0.05);β-地中海贫血组的RDW水平高于非β-地中海贫血组,差异有统计学意义(P<0.05)。毛细管电泳HbA+HbA2/HbA及联合RDW检测的阳性预测值、阴性预测值、灵敏度、特异度最高,分别为90.08%、88.34%、89.74%、86.23%。结论毛细管电泳HbA+HbA2/HbA初筛联合血液学指标(RDW)筛查新生儿β-地中海贫血的效能高,可弥补毛细管电泳HbA+HbA2/HbA筛查假阳性率高的缺点,值得临床推广应用。

Objective To evaluate the diagnostic value of HbA+HbA2/HbA and RDW screening by capillary electrophoresis in the diagnosis of neonatalβ-thalassemia.Methods A total of 2009 newborns delivered in our hospital from January 2021 to December 2023 were selected and screened forβ-thalassemia by capillary electrophoresis,hematological indicators and genetic examination,and the distribution ofβ-thalassemia gene types was described.The capillary electrophoresis HbA,HbA2/HbA and hematological indexes were compared between the non-β-thalassemia group and theβ-thalassemia group,and the efficacy of capillary electrophoresis HbA+HbA2HbA preliminary screening combined with hematological indexes RDW diagnosis for neonatalβ-thalassemia was analyzed.Results There were 12 cases ofβ-thalassemia positive neonates with the overall detection rate of 0.60%,11cases(91.67%)of simple heterozygous mutations inβ-thalassemia,and 1 case(8.33%)of complex heterozygous mutations inβ-thalassemia,which were common inβ(CD41-42)andβ(IVS-II-654)mutations.The HbA index of newborns inβ-thalassemia group was significantly lower than that in non-β-thalassemia group(P<0.05),and the HbA2/HbA index of newborns in non-β-thalassemia group was(2.01±0.10)%,while the newborns in non-β-thalassemia group had no HbA2.There were no significant differences in the levels of MCV,MCH,MCHC,RBC and Hb indexes between the non-β-thalassemia group and theβ-thalassemia group(P>0.05),while the RDW indexes in theβ-thalassemia group were significantly higher than those in the non-β-thalassemia group(P<0.05).The highest positive predictive value,negative predictive value,sensitivity and specificity ofβ-thalassemia were 90.08%,88.34%,89.74%,86.23%by capillary electrophoresis with HbA+HbA2/HbA and combined detection,respectively.Conclusion Capillary electrophoresis HbA+HbA2/HbA preliminary screening combined with hematological indicators(RDW)has high efficiency in screening newbornβ-thalassemia,which makes up for the shortcomings of high false positive rate in capillary electrophoresis HbA+HbA2/HbA screening,and can be popularized in clinical practice.