目的: 探讨高效液相色谱(high performance liquid chromatography,HPLC)在上海地区珠蛋白生成障碍性贫血（又称地中海贫血,以下简称地贫）筛查中的实际应用价值。方法: 应用HPLC技术,对135例临床疑似地贫的患者进行血红蛋白分析,同时采用缺口聚合酶链反应( gap-polymerase chain reaction, gap-PCR)和反向斑点杂交(reverse dot blot,RDB)进行基因检测。结果: ①以基因分析为金标准,应用HPLC方法检测β地贫携带者,血红蛋白A₂(hemoglobin A₂,HbA₂) >3.7%为临界值,诊断β地贫携带者的灵敏度为100%,特异度为98.41%,阳性预测值98.0%,阴性预测值100%;②HbA₂<1.7%为临界值,诊断中间型α地贫（血红蛋白H病,hemoglobin H disease, HbH病）的灵敏度为100%,特异度为100%,阳性预测值为100%,阴性预测值为100%;③应用HPLC法检出快速区带8例。结论: 应用HPLC法筛查β地贫灵敏度高,特异性强,与基因分析结果间有很高的符合率,且其操作简便、快速,适用于β地贫的诊断、分型及中间型α地贫（HbH病）的筛查,但对于静止型和标准型α地贫的筛查存在一定的漏诊率。

Objective: To investigate the application of high performance liquid chromatography (HPLC) in the screening of thalassemia in Shanghai. Methods: The hemoglobin of 135 patients with suspected thalassemia were analyzed by using HPLC. Gene detection of thalassemia by GAP-PCR and reverse dot blot (RDB) were simultaneously performed. Results: Using gene detection as a gold standard, when HbA₂>3.7% was taken as the cutoff value for diagnosis of β-thalassemia carriers by HPLC, the sensitivity and specificity were 100%, and 98.41%, and the positive predictive value and negative predictive value were 98.0% and 100%, respectively. If <1.7% was taken as the cutoff value of HbA₂ for diagnosis of α-thalassemia （HbH disease） by HPLC, the indice above-mentioned were 100%, 100%, 100%, 100%, respectively. Out of 135 samples, there were 8 cases being detected a HbH peak. Conclusion: Results of HPLC detection are in excellent agreement with those of the gene detection in the diagnosis of β-thalassemia and HbH disease, while certain false negative rate may occur in the diagnosis of minor α-thalassemia or α-thalassemia trait.