CAPILLARYS 2血红蛋白电泳联合MCH筛查地中海贫血应用评价  

Assessment of hemoglobin electrophoresis by CAPILLARYS 2system combined with MCH test in measurement of thalassemia

作　　者：李红萍[1] 李培培[1] 张轩[1] 朱淑娥[1] 林洁[1] 杨庆伟[1] 陈伟光[1] 吴晓洋[1] 

机构地区：[1]广州医科大学附属深圳沙井医院检验科,广东深圳518104

出　　处：《临床血液学杂志》2014年第6期978-982,共5页Journal of Clinical Hematology

摘　　要：目的:评价CAPILLARYS 2全自动电泳仪血红蛋白电泳Hb A2值单独以及联合平均红细胞血红蛋白量(MCH)分析在地中海贫血筛查中的应用价值。方法:275例β-地中海贫血基因携带者、44例α-合并β-地中海贫血基因携带者、186例α-地中海贫血基因携带者和398例非地中海基因携带者,分别用XE-2100血细胞分析仪检测红细胞平均体积和MCH,CAPILLARYS 2全自动电泳仪作血红蛋白电泳,GAP-PCR法检测α链的3种常见缺失和PCR结合反向斑点杂交法检测β的17个常见突变位点。CAPILLARYS 2全自动电泳仪血红蛋白电泳Hb A2值单独以及联合MCH评价,是以敏感度、特异度、阳性预测值、阴性预测值作为判定指标。结果:CAPILLARYS 2全自动电泳仪血红蛋白电泳筛查β-地中海贫血基因携带者和α-合并β-地中海贫血基因携带者,检测结果敏感度为100.00%,特异性为98.29%,阳性预测值为96.96%,阴性预测值为100.00%。CAPILLARYS 2全自动电泳仪血红蛋白电泳筛查α-地中海贫血基因携带者(包括Hb H病),检测结果敏感度为90.32%,特异性为72.25%,阳性预测值为45.78%,阴性预测值为96.64%。CAPILLARYS 2全自动电泳仪血红蛋白电泳结果Hb A2值联合MCH为判定指标筛查α-地中海贫血基因携带者,检测结果敏感度为90.32%,特异性为87.87%,阳性预测值为65.88%,阴性预测值为97.22%。结论:CAPILLARYS 2全自动电泳仪血红蛋白电泳直接筛查β-地中海贫血基因携带者和α-合并β-地中海贫血基因携带者,敏感度高、特异性好。CAPILLARYS 2全自动电泳仪血红蛋白电泳结果Hb A2值联合MCH为判定指标筛查α-地中海贫血基因携带者,可以提高筛查的特异性和阳性预测值。Objective：To evaluate the application value of hemoglobin A2 eleetrophoresis by CAPILLARYS 2 system and mean corpuscular hemoglobin （MCH） in the diagnosis of thalassemia. Method： A total of 275 β-thalas semia gene carriers,44 αβ-compound thalassemia gene carriers, 186 α-thalassemia gene carriers and 398 non-thalassemia gene carriers were collected from our hospital. MCV and MCH were tested by XE-2100 hemoglobin A2 elec trophoresis and was analyzed by CAPILLARYS 2 system. GAP-PCR and PCR reverse blot hybridization were used to detect 3 common α-thalassemia genes and 17 common 13 thalassemia genes mutation,respectively. The sensitivity （Se） ,specificity （Sp）,positive predictive value （PV＋） and negative predictive value （PV-） were compared between single hemoglobin electrophoresis measurement and combination measurement of hemoglobin electrophoresis with MCH in thalassemia diagnosis. Result： Screening β-thalassemia gene carriers and α-compound thalassemia gene carriers with hemoglobin electrophoresis by CAPILLARYS 2 system, the Se was 100. 00%, the Sp was 98.29% ,the PV＋ was 96. 96% and the PV was 100.00%. Screening α-thalassemia gene carriers （including Hb H） with hemoglobin electrophoresis by CAPILLARYS 2 system,the Se was 90. 32% ,the Sp was 72. 25%. the PV＋ was 45.78 % and the PV was 96.64 %. Screening α-thalassemia gene carriers by combination of hemoglobin electrophoresis with MCH,the Se was 90. 32%, the Sp was 87. 87%, the PV＋ was 65. 88% and the PV was 97.22%. Conclusion： Hemoglobin electrophoresis by CAPII.LARYS 2 system has high Se and Sp in β-tbalassemia and αβ-compound thalassemia gene carriers screening,while combination of hemoglobin electrophoresis with MCHcan improve the Sp and PV＋ in α-thalassemia gene carriers screening.

关 键 词：地中海贫血 血红蛋白电泳 平均红细胞血红蛋白量 

分 类 号：R556[医药卫生—血液循环系统疾病]