血红蛋白电泳联合地中海贫血基因检测在早期诊断地中海贫血中的价值研究

Study on value of hemoglobin electrophoresis combined with thalassemia genetic testing in the early diagnosis of thalassemia

目的研究血红蛋白电泳联合地中海贫血基因检测在早期诊断地中海贫血中的价值。方法 300例进行婚检、产检或者正常检查者,将其中200例疑有地中海贫血的患者随机分为对照组和试验组,每组100例,其余100例正常者设为阴性对照者。对照组仅使用血红蛋白电泳诊断;试验组使用血红蛋白电泳联合地中海贫血基因诊断。观察比较试验组与对照组疑有地中海贫血患者α-地中海贫血、β-地中海贫血、总有效检测率;并对α-地中海贫血、β-地中海贫血及阴性对照者的血红蛋白A2(HbA2)、血红蛋白A(HbA)、血红蛋白F(HbF)含量进行对比。结果试验组α-地中海贫血、β-地中海贫血、总有效检测率分别为45.00%、51.00%、96.00%,均高于对照组的20.00%、25.00%、45.00%,差异均具有统计学意义(P<0.05)。α-地中海贫血患者、β-地中海贫血患者HbF的含量均高于阴性对照者,差异均具有统计学意义(P<0.05);β-地中海贫血患者HbA2的含量高于阴性对照者,差异具有统计学意义(P<0.05);阴性对照者HbA的含量均高于α-地中海贫血患者、β-地中海贫血患者,差异均具有统计学意义(P<0.05)。结论血红蛋白电泳联合地中海贫血基因检测在早期诊断地中海贫血中具有实际临床意义。

Objective To study the value of hemoglobin electrophoresis combined with thalassemia genetic testing in the early diagnosis of thalassemia. Methods There were 200 suspected thalassemia patients among 300 cases for premarital examination, birth inspection or normal examination, and they were randomly divided into control group and experimental group, with 100 cases in each group. The other 100 normal cases were used for negative control. The control group was diagnosed by hemoglobin electrophoresis, and the experimental group was diagnosed by hemoglobin electrophoresis and thalassemia genetic testing. Observation and comparison were made on α-thalassemia, β-thalassemia and total effective detection rates between experimental group and control group. The hemoglobin A2（HbA2）, hemoglobin A（Hb A） and hemoglobin F（Hb F） were compared in α-thalassemia, β-thalassemia and the negative control patients. Results The experimental group had higher α-thalassemia, β-thalassemia and total effective detection rates respectively as 45.00%, 51.00% and 96.00% than 20.00%, 25.00% and 45.00% in the control group, and the difference had statistical significance（P〈0.05）. α-thalassemia and β-thalassemia cases had higher content of Hb F than negative control cases, and the difference had statistical significance（P〈0.05）. β-thalassemia cases had higher content of HbA2 than negative control cases, and the difference had statistical significance（P〈0.05）. The negative control cases had higher content of Hb A than α-thalassemia and β-thalassemia cases, and the difference had statistical significance（P〈0.05）. Conclusion Hemoglobin electrophoresis and thalassemia genetic testing shows practical clinical significance in early diagnosis of thalassemia.