高效液相色谱分析在HbE筛查中的应用价值

目的探讨高效液相色谱分析法在HbE病筛查中的价值。方法应用高效液相色谱分析仪对24 779例样本进行血红蛋白(Hb)分析,HbA2≥11%的样本进行HbE基因检测。结果 24 779例标本中检出129例HbA2≥11%的样本,含量为14.0%～75.2%(27.2%±9.4%)。经基因检测均确诊为HbE病,包括HbE杂合子、HbE/α-珠蛋白生成障碍性贫血、HbE/β-珠蛋白生成障碍性贫血、HbE/α-β-珠蛋白生成障碍性贫血和HbE纯合子,其HbA2含量分别为(26.1±1.3)%、(18.2±1.8)%、(45.9±8.0)%、38.6%和(73.9±1.8)%。经ROC曲线分析HbA2筛查HbE的临界值为11.7%。结论高效液相色谱不仅能有效地筛查HbE病,还可以通过HbA2含量区分HbE病突变类型及其复合珠蛋白生成障碍性贫血的类型,是筛查HbE病的有效方法。

Application value of high performance liquid chromatography in the screening for HbE disease

Objective To explore the value of high performance liquid chromatography in the screening for HbE disease.Methods 24 779 samples were detected for hemoglobin by high performance liquid chromatography,and HbA2≥ 11% samples for genetic testing of HbE.Results Among 24 779 samples identifying 129 samples with HbA2≥11%,the content was 14.0%-75.2%（27.2%±9.4%）.Genetic testing were diagnosed as HbE disease,including HbE heterozygous,HbE/α-thalassemia,HbE/β-thalassemia homozygotes,HbE composited alpha and beta thalassemia and HbE homozygotes,the HbA2 of which were（26.1±1.3）%,（18.2±1.8）%,（45.9±8.0）,38.6% and（73.9±1.8）%.The cutoff value of HbA2 in the screening for HbE disease was 11.7% by ROC curve analysis.Conclusion High performance liquid chromatography is an effective screening method for HbE disease,which can distinguish between HbE disease mutation type and composite thalassemia by HbA2 content,is an effective method for screening HbE disease.