高压毛细电泳技术检测β-地中海贫血的结果分析

Application of automatic capillary electrophoresis of hemoglobin system in measurement of β-thalassemia

目的应用高压毛细电泳技术准确、快速检测β-地中海贫血,分析基因确证β-地中海贫血患者用Sebia公司的Capil-larys2全自动毛细管电泳仪检测情况。方法选择经反向斑点杂交方法证实为β-地中海贫血的患者131例(患病组)及非β-地中海贫血人群50例(对照组)用高压毛细电泳技术测定Hb A2和Hb F。结果β-地中海贫血131例,其中杂合子118例(90.07%),双重杂合子11例(8.40%),纯合子2例(1.53%);以CD41-42(35.88%)、IVS-II-654(19.85%)、CD17(17.28%)、-28(10.69%)4种为主。应用高压毛细电泳方法检测HbA2升高121例,占92.37%,其中有2例合并异常HbE,1例合并异常HbS;10例正常HbA2中有9例HbF增高,其中有1例合并异常HbS;高压毛细电泳法用于β-地中海贫血诊断的灵敏度(Se)为97.71%,特异度(Sp)为94.00%,准确度(Ac)为96.69%,阳性预测值(PPV)为97.71%,阴性预测值(NPV)为94.00%。结论高压毛细电泳方法是一种用于检测β-地中海贫血的理想实验工具,能为β-地中海贫血提供快速而又准确的诊断依据。

Objective To analyze the gene of β - thalassemia patients confirmed by CAPILLARYS 2 NEONAT FAST detection. Methods 131 patients with β-thalassemia,confirmed by reverse dot blot hybridization method,were enrolled as disease group and 50 non-β-thalassemia subjects were enrolled as control group,all of which were detected for Hb A2 and Hb F with capillary elec-trophoresis. Results in 131 cases of β-thalassemia, 118 cases were heterozygote（90. 07%）, 11 cases were ：double heterozygote（8. 40%） ,2 cases were homozygous （ 1.53%）, mainly with CD41-42 （35. 88%）, IVS-Ⅱ-654 （ 19.85%）, CD17 （ 17. 28%） and-28 （ 10. 69 %）. Application of high pressure capillary electrophoretic method could detect the increasing of HbA2 in 121 cases, accounting for 92.37% ,including 2 cases with abnormal HbE,1 case with abnormal HbS. 9 cases were with increased HbF in 10 cases of nor-mal HbA2,including 1 case with abnormal HbS. The high-pressure capillary electrophoresis method, for the diagnosis of β-thalasse-mia,was with sensitivity of 97.71% ,specificity of 94% ,accuracy of 96.69%,positive predictive value of 97.71% and negative pre-dictive value of 94%. Conclusion High pressure capillary electrophoresis could be used for detecting β-thalassemia,providing quick and accurate diagnostic basis of β-thalassemia.