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目的:以地中海贫血基因检测结果为金标准,评价高效液相色谱分析法(HPLC)在福建地区β-地中海贫血临床诊断中的应用价值。方法:选择2009年1月～2010年6月在福建省妇幼保健院遗传门诊咨询的患者308例,采用HPLC测定血红蛋白亚型HbA2含量,回顾性分析该法在β-地中海贫血诊断中的应用价值。结果:以基因诊断为金标准,HPLC系统筛查β-地中海贫血的灵敏度为99.2%,特异性为96.2%,准确度为98.3%,阳性预测值为98.4%,阴性预测值为98.1%。结论:高效液相色谱分析法对β-地中海贫血诊断具有较高的敏感性和特异性,是大规模筛查β-地贫的一种比较理想的方法。
Objective: To evaluate the value of high performance liquid chromatography (HPLC) in the clinical diagnosis of β-thalassemia in Fujian Province, using the genetic test of thalassemia as the gold standard. Methods: From January 2009 to June 2010, 308 cases of genetic counseling in Fujian MCH hospital were selected. HbA2 content in hemoglobin subtype was determined by HPLC. The diagnostic value of this method in the diagnosis of β-thalassemia was retrospectively analyzed . Results: The sensitivity of β-thalassemia screening by HPLC was 99.2%, specificity 96.2%, accuracy 98.3%, positive predictive value 98.4% and negative predictive value 98.1%. CONCLUSION: High performance liquid chromatography has high sensitivity and specificity for the diagnosis of β-thalassemia. It is an ideal method for large-scale screening of β-thalassemia.