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目的探讨血红蛋白电泳联合地中海贫血基因检测对地中海贫血患者的诊断价值。方法选取2012年2月至2014年9月在广东省江门市妇幼保健院接受婚检、产检、基因筛查后疑似地中海贫血的386例患者为研究对象,均进行血红蛋白电泳检测,检查结果异常者及不能确诊者行地中海贫血基因检测。比较患者的血红蛋白Hb A、Hb A2、Hb F值及单纯血红蛋白电泳检测和电泳+基因检测对地中海贫血的检出率。结果通过血红蛋白电泳检测,α-地中海贫血患者Hb A、Hb A2值明显低于阴性患者,Hb F值明显高于阴性患者,差异有统计学意义(P<0.05);β-地中海贫血者Hb A值明显低于阴性患者,Hb A2、Hb F值明显高于阴性患者,差异有统计学意义(P<0.05);电泳+基因检测对α-地中海贫血的检出率明显高于单纯血红蛋白电泳检测的检出率,差异有统计学意义(P<0.05)。总检出率比较,α-地中海贫血检出率与β-地中海贫血检出率差异有统计学意义(P<0.05)。结论血红蛋白电泳联合地中海贫血基因检测用于诊断地中海贫血准确率高于单纯使用血红蛋白电泳检测技术,具有较高的临床应用价值。
Objective To investigate the diagnostic value of hemoglobin electrophoresis combined with thalassemia gene detection in thalassemia patients. Methods From March 2012 to September 2014, 386 patients suspected of having thalassemia due to premarital examination, birth examination and gene screening in MCH hospital of Jiangmen City, Guangdong Province were selected as subjects for the study. All patients underwent hemoglobin electrophoresis, Can not confirm the line of thalassemia gene test. HbA, HbA2, HbF values of hemoglobin were compared with those of hemoglobin electrophoresis and electrophoresis + gene detection in thalassemia patients. Results Hb A and Hb A2 in patients with α-thalassemia were significantly lower than those in patients with negative expression by Hb electrophoresis. The Hb F value was significantly higher than that in negative patients (P <0.05) (P <0.05). The detection rate of α-thalassemia by electrophoresis + gene was significantly higher than that of hemoglobin alone The detection rate, the difference was statistically significant (P <0.05). The overall detection rate, α-thalassemia detection rate and β-thalassemia differences were statistically significant (P <0.05). Conclusion The accuracy of hemoglobin electrophoresis combined with thalassemia gene detection in the diagnosis of thalassemia is higher than that of pure hemoglobin electrophoresis, which has a high clinical value.