全自动毛细管电泳法定量测定血红蛋白A2快速筛查β珠蛋白生成障碍性贫血的应用评价

Evaluation of fully automated capillary electrophoresis detection of HbA2 for the screening of β-thalassemia

目的对全自动毛细管电泳(CE)分析仪定量检测血红蛋白A2(HbA2)用于筛查β珠蛋白生成障碍性贫血(β地贫)基因携带者进行方法学评价。方法随机选择82对夫妇及150对地贫高危夫妇,采用全自动CE分析仪检测HbA2,计算批内、批间变异系数,评价精密度和稳定性;与高效液相色谱法(HPLC)进行比较;以基因诊断结果为金标准,评价CE检测地贫的准确性。结果 CE检测批内、批间精密度较好;与HPLC检测HbA2结果的相关系数为0.947;CE检测当地健康者HbA2的95%频数分布范围为2.2%～3.4%;CE诊断β地贫杂合子的HbA2临界值为4.05%;在基因诊断确诊的65例β地贫杂合子、10例αβ复合地贫、3例HbE病中,CE仅漏诊1例,无误诊。结论全自动CE分析是一种快速直观、分辨率高、稳定性和精密度好的HbA2测定方法,适用于β地贫杂合子筛查。

Objective To evaluate the application of fully automated capillary electrophoresis（CE） detection of hemoglobin（Hb） A2 for the screening of β-thalassemia（β-Thal）.Methods 82 couples and 150 couples with high risk of Thal were detected for HbA2 by CE analysis.Inter-and intra-assay coefficients of variation were calculated.Comparison with high performance liquid chromatography（HPLC） was performed.Accuracy of CE was also analyzed.Results CE was with fine inter-and intra-assay coefficients of variation.Compared with HPLC,the correlation coefficient was 0.947.The reference value of HbA2 was 2.2%-3.4%.The diagnostic cut-off value was 4.05%.There was fine correlation between CE and gene diagnosis of β-Thal.Conclusion Fully automated CE analysis might be an fast,high-resolution,stable and accurate method for the screening of β-Thal.