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目的探讨高效液相色谱法(HPLC)检测血红蛋白Constant Spring(CS)影响因素。方法回顾性分析2016年全年进行地中海贫血(地贫)HPLC筛查与α地贫基因检测的结果,从而对CS筛查的效果进行评价。结果 2016年全年进行地中海贫血(地贫)HPLC筛查与α地贫基因检测共10007例,10007例中α地贫基因检测CS突变阳性505例,HPLC共检测出CS阳性451例,与α地贫基因检测相符,应用HPLC方法筛查CS的敏感性为89.3%,特异性为100.0%,准确性为99.5%,阳性预测值为100.0%,阴性预测值为99.3%。HPLC法漏检54例,其中有49例为CS杂合突变复合轻型β地贫,2例为外院陈旧血样本,2例为婴儿血标本,1例合并异常血红蛋白Hb G-siriraj(与CS峰出峰时间相近)。结论 HPLC方法是筛查α地贫CS突变的有效方法,合并β地贫、血标本的保存时间、筛查年龄及合并与CS峰出峰时间相近的其他异常血红蛋白可影响该方法准确性和敏感性。
Objective To investigate the influencing factors of hemoglobin Constant Spring (CS) by high performance liquid chromatography (HPLC). Methods The results of HPLC screening and thalassemia gene detection in thalassemia (thalassemia) in 2016 were retrospectively analyzed, and the effect of CS screening was evaluated. Results In 2016, there were 10007 cases of thalassemia (thalassemia) by HPLC screening and α-thalassemia gene test in 2016. 505 cases were positive for CS mutation in 10007 cases of α-thalassemia gene, 451 cases were positive by HPLC, Thalassemia gene detection consistent with the application of HPLC screening for CS sensitivity was 89.3%, specificity was 100.0%, accuracy was 99.5%, the positive predictive value was 100.0%, the negative predictive value was 99.3%. Among them, 54 cases were missed by HPLC. Among them, 49 cases were CS heterozygous mutation combined with light β-thalassemia, 2 cases were out-dated old blood samples, 2 cases were infant blood samples and 1 case was associated with abnormal hemoglobin Hb G-siriraj The peak time is similar). Conclusion HPLC method is an effective method to screen CS mutations in α-thalassemia. The combination of β thalassemia, the preservation time of blood samples, screening age and other abnormal hemoglobin with similar peak time of CS can affect the accuracy and sensitivity of this method Sex.