全自动毛细管电泳在地贫筛查中的价值评估

The value evaluation of automatic capillary electrophoresis in the screening of thalassemia

目的探讨全自动毛细管电泳在地中海贫血症(地贫)筛查中的应用价值。方法选取6000例接受地贫筛查的人员,所有人员均自愿接受全自动毛细管电泳检查,同时电泳检查阳性的患者接受聚合酶链式反应(PCR)基因检查。将PCR基因检查作为金标准,分析全自动毛细管电泳及PCR基因的筛查结果、全自动毛细管电泳筛查地贫的结果、全自动毛细管电泳筛查地贫的诊断效能;比较α表型地贫与β表型地贫的不同指标水平差异。结果6000例筛查人员中,全自动毛细管电泳检查结果显示,有1656例(27.6%)为异常表型,其中包括1440例(24.0%)血红蛋白A2(HbA2)降低、疑似α表型地贫阳性,216例(3.6%)HbA2升高、疑似β表型地贫阳性。1656例全自动毛细管电泳检查异常表型人员接受了PCR基因筛查,结果显示,有897例为地贫异常表型,其中包括686例α表型地贫阳性,211例β表型地贫阳性。以PCR基因筛查为金标准,全自动毛细管电泳筛查地贫的真阳性为897例,包括686例α表型地贫阳性,211例β表型地贫阳性,无漏诊,假阳性(误诊)759例。全自动毛细管电泳筛查α表型地贫的准确度为47.6%,灵敏度为100.0%,特异度为0;全自动毛细管电泳筛查β表型地贫的准确度为97.7%,灵敏度为100.0%,特异度为0。α表型地贫和β表型地贫红细胞计数、血红蛋白、平均红细胞血红蛋白含量(MCH)水平比较无显著差异(P>0.05);α表型地贫的平均红细胞容积(MCV)水平显著高于β表型地贫(P<0.05)。结论在地贫筛查过程当中应用全自动毛细管电泳诊断灵敏度高,能够为临床地贫患者的诊疗提供部分参考依据。

Objective To explore the practical value of automatic capillary electrophoresis in the screening of thalassemia.Methods A total of 6000 subjects for thalassemia screening were selected.All the patients voluntarily underwent automatic capillary electrophoresis examination,meanwhile,patients with positive electrophoresis examination received polymerase chain reaction(PCR)gene examination.PCR gene test was used as the gold standard to analyze the results of automatic capillary electrophoresis and PCR gene screening,the results of automatic capillary electrophoresis screening for thalassemia,the clinical efficacy of automatic capillary electrophoresis screening for thalassemia.the difference of different indexes ofαphenotype thalassemia andβphenotype thalassemia.The different index levels ofαphenotypic thalassemia andβphenotypic thalassemia were compared.Results Among the 6000 screened subjects,1656 cases(27.6%)showed abnormal phenotype,of which 1440 cases(24.0%)had decreased hemoglobin A2(HbA2)and suspectedα-thalassemia positive,and 216 cases(3.6%)had elevated HbA2 and suspectedβ-thalassemia positive.PCR gene screening was performed on 1656 patients with abnormal phenotype by automatic capillary electrophoresis.The results showed that 897 cases were abnormal for thalassemia screening,in which,686 cases were positive forα-thalassemia and 211 cases were positive forβ-thalassemia.Using PCR gene screening as the gold standard,there were 897 true positives by automatic capillary electrophoresis,including 686 cases ofα-thalassemia positive,211 cases ofβ-thalassemia positive,no missed diagnosis and 759 false positives(misdiagnoses).The accuracy,sensitivity and specificity of automatic capillary electrophoresis forα-thalassemia were 47.6%,100.0%and 0;the accuracy,sensitivity and specificity of automatic capillary electrophoresis forβ-thalassemia were 97.7%,100.0%and 0.There were no significant differences in erythrocyte count,hemoglobin and mean corpuscular hemoglobin(MCH)levels betweenα-thalassemia andβ-thalassemia(P>0.05).The mean corpuscular volume(MCV)level ofα-thalassemia was significantly higher than that ofβ-thalassemia(P<0.05).Conclusion The application of automatic capillary electrophoresis in the screening process of thalassemia is highly sensitive and can provide some reference for the diagnosis and treatment of thalassemia patients.