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目的探讨高效液相色谱技术应用于α地贫、β地贫、αβ复合型地贫以及其它异常血红蛋白病诊断的临床价值。方法选择受检者1 872例进行地中海贫血基因检测,同时应用高效液相色谱法分析血红蛋白组分;根据基因检测结果将受检者分为α地贫、β地贫、αβ复合型地贫3个实验组以及对照组,计算Hb A2值对各实验组的诊断灵敏度、特异度、阳性预测值、阴性预测值和诊断准确率,进行对比分析、评价HPLC法对各类型地贫的诊断效能,同时结合高效液相色谱分析的峰型图谱对异常血红蛋白病进行诊断。结果 11 872例样本中,地贫基因携带者783例(α地贫508例,β地贫262例,αβ复合型地贫13例),非地贫基因携带者1 089例(对照组)。2高效液相色谱分析法对α地贫检测的灵敏度为28.3%(144/508)、特异度80.1%(872/1 089)、阳性预测值39.9%(144/361)、阴性预测值70.6%(872/1 236)和诊断准确率63.6%(1 016/1 597);对β地贫检测的灵敏度为97.3%(255/262)、特异度99.5%(1 084/1 089)、阳性预测值98.1%(255/260)、阴性预测值99.4%(1 084/1 091)和诊断准确率99.1%(1 339/1 351);对αβ复合地贫检测的灵敏度为100.0%(13/13)。3结合高效液相色谱分析的峰型图谱共诊断异常血红蛋白病7例,包括2例Hb J-Bangkok、2例Hb E、1例镰型红细胞贫血、1例Hb D、1例Hb Abruzzo。结论 HPLC法适用于临床对地中海贫血疾病的筛查,其中对β地贫的筛查效率好于α地贫;HPLC法在诊断地贫的同时对发现其他异常血红蛋白病也有重要的临床价值。
Objective To investigate the clinical value of high performance liquid chromatography (HPLC) in the diagnosis of α thalassemia, β thalassemia, αβ complex thalassemia and other abnormal hemoglobinopathies. Methods A total of 1 872 subjects were selected for genetic testing for thalassemia and hemoglobin components were analyzed by high performance liquid chromatography (HPLC). According to the results of gene tests, the subjects were divided into α thalassemia, β thalassemia, αβ complex thalassemia 3 A group of experimental group and a control group, the diagnostic sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy of Hb A2 values were calculated for each experimental group to compare and evaluate the diagnostic efficiency of various types of thalassemia by HPLC, At the same time, combined with the peak pattern of HPLC analysis of abnormal hemoglobin disease diagnosis. Results Among 11 872 samples, there were 783 carriers of thalassemia (508 thalassemia, 262 thalassemia, 13 thalassemia) and 1 089 non-thalassemia carriers (control group). The sensitivity and specificity of HPLC for the detection of alpha thalassemia were 28.3% (144/508), 80.1% (872/1 089), 39.9% (144/361), and the negative predictive value was 70.6% (872/1 236) and diagnostic accuracy rate 63.6% (1 016/1 597). The sensitivity of detection for β-thalassemia was 97.3% (255/262) and the specificity was 99.5% (1084/1 089). The positive predictive value The positive predictive value (99.0%) was higher than that of the control group (98.1%, 255/260), the negative predictive value was 99.4% (1 084/1 091) and the diagnostic accuracy was 99.1% (1 339/1 351) ). 3 Combined with the peak pattern analysis of high performance liquid chromatography in the diagnosis of abnormal hemoglobin disease in 7 cases, including 2 cases of Hb J-Bangkok, 2 cases of Hb E, 1 case of sickle cell anemia, 1 case of Hb D, 1 case of Hb Abruzzo. Conclusion The HPLC method is suitable for clinical screening of thalassemia diseases. The screening efficiency of β thalassemia is better than that of α thalassemia. HPLC method is also of great clinical value in the diagnosis of thalassemia and other abnormal hemoglobin diseases.