全自动毛细管电泳仪在珠蛋白生成障碍性贫血筛查中的应用

目的评价法国Sebia公司Capillarys 2全自动毛细管电泳仪在珠蛋白生成障碍性贫血筛查中的应用。方法采集2011年8～12月经血分析(红细胞平均体积小于80fL,红细胞平均血红蛋白浓度小于26pg的8岁以上患者)筛选后的292份标本用法国Sebia公司Capillarys 2全自动毛细管电泳仪对入选标本进行血红蛋白(Hb)毛细管电泳、血清铁、铁蛋白检查,同时作α-及β-珠蛋白生成障碍性贫血基因检查。结果 (1)共检测了292例临床标本,符合α-珠蛋白生成障碍性贫血表型者36例,β-珠蛋白生成障碍性贫血表型者135例。同时出现α-及β-珠蛋白生成障碍性贫血表型者2例。(2)高压毛细管电泳法用于α-珠蛋白生成障碍性贫血诊断的灵敏度为86.11%,特异度为98.37%,准确度为95.60%,阳性预测值为93.94%,阴性预测值为96.03%。(3)高压毛细管电泳法用于β-珠蛋白生成障碍性贫血诊断的灵敏度为97.04%,特异度为98.35%,准确度为97.66%,阳性预测值为98.50%,阴性预测值为96.75%。HbA2值大于4.0%时,β-珠蛋白生成障碍性贫血基因法检测阳性率达100.00%。结论法国Sebia公司Capillarys 2全自动毛细血管电泳仪对Hb区带分辨及定量准确度高,可为Hb病(包括珠蛋白生成障碍性贫血及异常Hb病)的初筛提供快速的诊断依据。

Application of automatic capillary electrophoresis in screening for thalassemia

Objective To evaluate the French Sebia Capillarys 2 automatic capillary electrophoresis in screening for thalassemia.Methods From August to December in 2011,292 specimens of blood screening to detect capillary electrophoresis of hemoglobin,serum iron and ferritin by French Sebia Capillarys 2 automatic capillary electrophoresis（mean corpuscular volume less than 80 fL,MCHC26 pg in patients over 8 years old）,while for α-and β-thalassemia gene detection.Results（1） Detected 292 cases of clinical specimens,in which there were 36 cases of α-thalassemia phenotype,135 cases of β-thalassemia phenotype,2 cases bothα-and β-thalassemia phenotype.（2） The high-pressure capillary electrophoresis method forα-thalassemia diagnosis sensitivity was 86.11%,the specificity was 98.37%,accuracy was 95.60%,the positive predictive value was 93.94%,the negative predictive value was 96.03%.（3）The high-pressure capillary electrophoresis method for β-thalassemia diagnosis sensitivity was 97.04%,the specificity was 98.35%,accuracy was 97.66%,the positive predictive value was 98.50%,the negative predictive value was 96.75%.The HbA2 value was greater than 4.00%,β-thalassemia gene detection positive rate was up to 100.00%.Conclusion French Sebia Capillarys 2 automatic capillary electrophoresis with high accuracy for zone resolution and quantification of hemoglobin,which provides rapidly diagnostic basis for preliminary screening of hemoglobinopathy（including thalassemia and abnormal hemoglobinopathy）.