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目的探讨血红蛋白电泳与突变基因检测诊断β-地中海贫血的临床意义。方法应用法国Sedia公司HY-DRASYS全自动电泳仪进行血红蛋白电泳,通过自动扫描系统分析,检出β-地中海贫血患儿及父母携带者,进一步应用聚合酶链反应(PCR)结合反向斑点杂交技术(RDB)检测其基因突变类型。结果经血红蛋白定量检测,检出中、重型β-地中海贫血27例,HbF值为75.81±21.72%,检出轻型β-地中海贫血11例,HbF值为6.24±6.54%、HbA2值为5.02±0.87%,父母携带者65例,HbA2值为5.67±1.15%;38例β-地中海贫血及父母携带者检出6种基因突变类型,依次为IVS-Ⅱ654(C→T)为44.62%、CD41-42(-TCTT)为24.61%、CD17(A→T)为12.31%、TATAbox-28(A→G)为9.23%、CD27-28(+C)为7.69%、CD71-72(+A)为1.54%。以IVS-Ⅱ654(C→T)突变类型占首位。结论血红蛋白电泳联合基因诊断是目前诊断β-地中海贫血最可靠的实验方法 。
Objective To investigate the clinical significance of hemoglobin electrophoresis and mutation detection in the diagnosis of β-thalassemia. Methods Hemoglobin electrophoresis was performed by HY-DRASYS automated electrophoresis system from Sedia, France. The children with β-thalassemia and their parents were detected by automatic scanning system. PCR and reverse dot blot hybridization (RDB) to detect the type of gene mutation. Results 27 cases of β-thalassemia major and β-thalassemia were detected by hemoglobin. The HbF value was 75.81 ± 21.72%. Eleven patients with mild β-thalassemia were detected. The HbF value was 6.24 ± 6.54% and the HbA2 value was 5.02 ± 0.87 %, 65 carriers were parents, HbA2 was 5.67 ± 1.15%; 38 cases of β-thalassemia and parental carriers detected six kinds of gene mutation types, followed by IVS-Ⅱ654 (C → T) was 44.62%, CD41- 42 (-TCTT) was 24.61%, CD17 (A → T) was 12.31%, TATAbox-28 (A → G) was 9.23%, CD27-28 (+ C) was 7.69%, CD71-72 1.54%. The IVS-Ⅱ654 (C → T) mutation type accounted for the first place. Conclusion Hemoglobin electrophoresis combined with gene diagnosis is the most reliable experimental method for diagnosis of β-thalassemia.