摘要
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,Hb A2)>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%;2Hb A2<1.7%为临界值,诊断中间型α地贫(血红蛋白H病,hemoglobin H disease,Hb H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(Hb H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 Hb A2〉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 Hb A2 for diagnosis of α-thalassemia（Hb H disease） by HPLC, the indice above-mentioned were 100%, 100%, 100%, 100%, respectively.Out of 135 samples, there were 8 cases being detected a Hb H peak. Conclusion： Results of HPLC detection are in excellent agreement with those of the gene detection in the diagnosis of β-thalassemia and Hb H disease, while certain false negative rate may occur in the diagnosis of minor α-thalassemia or α-thalassemia trait.
出处
《诊断学理论与实践》
2016年第5期472-476,共5页
Journal of Diagnostics Concepts & Practice
关键词
珠蛋白生成障碍性贫血
高效液相色谱
诊断
Thalassemia
High performance liquid chromatography（HPLC）
Diagnosis
