毛细管电泳法联合血液学指标在新生儿地中海贫血筛查中的价值  

The value of capillary electrophoresis combined with hematological indicators in the screening of neonatal thalassemia

作　　者：覃妮娅 袁幼红 徐燕 陈丽阳 QIN Niya;YUAN Youhong;XU Yan;CHEN Liyang(Yichang Maternal and Child Health Hospital,Yichang,Hubei 443000,China)

机构地区：[1]宜昌市妇幼保健院,湖北宜昌443000

出　　处：《中国优生与遗传杂志》2023年第3期609-613,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨干血斑毛细管电泳法联合血液学指标在新生儿地中海贫血中筛查的价值。方法收集宜昌全市共计63246例新生儿标本,采用毛细管电泳法进行初筛,筛查阳性的新生儿召回行血液学分析检测和基因检测,统计分析地中海贫血组和非地中海贫血组的血液学指标差异情况,同时比较单一毛细管电泳筛查和毛细管电泳联合血液学指标筛查两种筛查模式的效能。结果毛细管初筛阳性2301例,基因检测确定为地中海贫血895例,其中α-地中海贫血529例,β-地中海贫血356例;地中海贫血组MCV、MCH、MCHC、RBC和RDW水平相比于非地中海贫血组,差异具有统计学意义(P<0.001)。α-地中海贫血组MCV和MCH水平明显低于非地中海贫血组,差异具有统计学意义(P<0.001),β-地中海贫血组RDW水平明高于非地中海贫血组,差异具有统计学意义(P<0.001);Hb Bart’s单指标筛查对于α-地中海贫血筛查阳性预测值为97.24%,Hb Bart’s初筛结合MCV+MCH复筛的筛查模式,其α-地中海贫血筛查阳性预测值为98.69%;单纯毛细管电泳HbA+HbA2/HbA筛查,其阳性预测值为52.43%,毛细管电泳HbA+HbA2/HbA初筛结合血液学指标RDW复筛的筛查模式,其阳性预测值为89.11%。结论宜昌地区人群地中海贫血基因总体携带率较高。毛细管电泳HbBart’s筛查对α-地中海贫血具有较高的特异性;毛细管电泳HbA+HbA2/HbA初筛联合血液学指标RDW复筛,对于新生儿β-地中海贫血诊断具有较高的价值,显著提高诊断准确性,值得推广应用。Objective To explore the value of dried blood spot capillary electrophoresis combined with hematological indexes in screening neonatal thalassemia.Methods A total of 63246 neonatal specimens were collected in Yichang city,and the primary screening was carried out by capillary electrophoresis.Neonates with positive screening were recalled for hematological analysis and gene detection.The hematological indexes of thalassemia group and non-thalassemia group were statistically analyzed the differences were compared,and the efficacy of the two screening modes of single capillary electrophoresis screening and capillary electrophoresis combined with hematological index screening was compared.Results There were 2301cases positive by capillary screening,895 cases were identified as thalassemia by genetic test,including 529 cases ofα-thalassemia and 356 cases ofβ-thalassemia.The levels of MCV,MCH,MCHC,RBC and RDW in the thalassemia group were significantly different from those in the non-thalassemia group(P<0.001).MCV and MCH levels inα-thalassemia group were significantly lower than those in non-thalassemia group(P<0.001),and RDW levels inβ-thalassemia group were significantly higher than those in non-thalassemia group(P<0.001).The positive predictive value of Hb Bart’s single indicator screening for alpha-thalassemia screening was 97.24%,and the positive predictive value of Hb Bart’s preliminary screening combined with MCV+MCH screening was 98.69%.The positive predictive value of HbA+HbA2/HbA screening by simple capillary electrophoresis was 52.43%,and the positive predictive value of the screening mode of HbA+HbA2/HbA preliminary screening by capillary electrophoresis combined with RDW rescreening was 89.11%.Conclusion The overall carrying rate of thalassemia gene in Yichang area is relatively high.Capillary electrophoresis Hb Bart’s screening has high specificity forα-thalassemia,capillary electrophoresis HbA+HbA2/HbA primary screening combined with hematological index RDW re-screening has high value for the

关 键 词：新生儿疾病筛查 地中海贫血 基因突变 血液学分析 联合筛查 

分 类 号：R722.1[医药卫生—儿科]