全自动毛细管蛋白电泳系统在地中海贫血筛查中的应用

Automatic capillary electrophoresis system in the screening of thalassemia

目的对全自动毛细管蛋白电泳系统筛查地中海贫血效果进行观察及评价。方法使用法国SebiaMINICAP全自动毛细管电泳仪进行血红蛋白电泳筛查地中海贫血,并对地中海贫血表型阳性标本行基因分析确诊。结果α地中海贫血筛查与基因诊断符合率为82.8%,其中血红蛋白H病筛查与基因诊断符合率为88.0%;β地中海贫血筛查与基因诊断符合率为96.4%。结论全自动毛细管蛋白电泳系统适用于血红蛋白电泳筛查地中海贫血,尤其是筛查β地中海贫血和血红蛋白H病有良好的效果。

Objective To fully automated capillary electrophoresis system, proteins thalassemia screening and evaluation of effects observed. Methods The French Sebia MINICAP fully automated capillary eleetrophoresis for hemoglobin electrophoresis screening for thalassemia, and tbalassemia phenotypc in genetic analysis confirmed the positive specimens. Results a - thalassemia screening and genetic diagnosis rate was 82.8% ,including hemoglobin H disease screening and genetic diagnosis rate of 88.0% ; β - thalassemia screening and genetic diagnosis rate of 96.4%. Conclusion The automatic capillary electrophoresis system is suitable for protein, hemoglobin clectrophoresis thalassemia screening, especially screening β - thalassemia and hemoglobin H disease with good resuhs.