全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用评价

Application of Full Automated Capillary Electrophoresis System in the Analysis of Thalassemia

目的探讨全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用价值。方法使用法国Sebia公司的CapillarYs2全自动毛细管电泳仪对18003例成人血标本进行血红蛋白电泳分析，检测HbA，HbF，HbA2和异常血红蛋白含量，对筛查表型阳性的病例召回进行基因分析。结果18003例成人标本筛查出a珠蛋白生成障碍性贫血表型阳性者2226例，筛查阳性率12．36％，其中召回1070例行基因分析，626例为α珠蛋白基因缺失，符合率58．50％；B珠蛋白生成障碍性贫血表型阳性者1329例，筛查阳性率7．38％，其中召回733例行基因分析，710例为β珠蛋白基因突变，符合率96．86％。结论全自动毛细管电泳作为一种新型液相分离技术，具有快速、灵敏度高、分辨率高等优点，能对HbA2进行准确的定位及定量，可初步区分α，β珠蛋白生成障碍性贫血，有效筛出高危患者，全自动毛细管电泳分析技术与基因分析有良好的符合性。为珠蛋白生成障碍性贫血的诊断提供重要依据。

Objective To assess capillary electrophoresis system in the analysis of Thalassemia. Methods Using France Sebia company Capillary 2 automatic capillary electrophoresis instrument analysis 18 003 cases of adult hemoglobin electrophoresis,detection of HbA, HbF, HbA2 and abnormal hemoglobin content, the positive phenotypes cases were recalled for genetic analysis. Results 18 003 cases of adult specimens for alpha thalassemia phenotype was positive in 2 226 cases,screening positive rate 12.36%. Recalled of 1 070 for gene detection,626 patients for alpha globin gene deletion,with coincidence rate 58. 50%. Beta thalassemia phenotype was positive in 1 329 cases,screening positive rate 7. 38%. Recalled of 733 for gene detection,710 patients for beta globin gene mutation,with coincidence rate 96.86 %. Condusion Automatic capillary electrophoresis as a new type of liquid phase separation technology,has the advantages of fast speed,high sensitivity,high resolu- tion,accurate positioning and quantitative HbA2 content, Preliminary distinguish between alpha,beta thalassemia, effective screening in high risk patients,for thalassemia screening and diagnosis to provide fast and accurate diagnosis.