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  

Diagnostic value of hemoglobin electrophoresis combined with thalassemia gene detection in patients with thalassemia

作　　者：张艳芳[1] 谢丰华[1] 万志丹[1] 黄湘[1] 

机构地区：[1]南方医科大学附属中山博爱医院产前诊断中心,广东中山528403

出　　处：《中国优生与遗传杂志》2017年第5期29-31,共3页Chinese Journal of Birth Health & Heredity

基　　金：中山市科技局重大项目(2014A1FC006)项目名称:干血片毛细管电泳技术在中山市新生儿地贫防控中的应用

摘　　要：目的探讨血红蛋白电泳联合地中海贫血基因检测在地中海贫血患者临床诊断中的应用价值。方法收集2015年2月至2016年11月期间来我院接受婚检的11069对夫妇双方标本,先进行血常规检测,若夫妇一方MCV≤82fl或MCH≤27pg,则夫妇双方均进行血红蛋白电泳分析,若双方血红蛋白电泳结果均异常,则均接受地中海贫血基因检测,观察研究对象血红蛋白电泳检测的HBA值、HBA2值、HBF值以及地中海贫血基因检测结果。结果经血常规和血红蛋白电泳初筛后,共有466对夫妇接受地中海贫血基因检测,其中580例为α-地中海贫血携带者,夫妇双方均为携带者45例,166例为β-地中海贫血携带者,夫妇双方均为携带者9例。经血红蛋白电泳检测发现,α-地中海贫血患者和β-地中海贫血患者的HBA值、HBA2值均低于阴性者(P<0.05),HBF值高于阴性者(P<0.05)。结论血红蛋白电泳用于诊断地中海贫血具有良好的应用价值,但与地中海贫血基因检测联合应用,能够进一步提高地中海贫血的检出率,减少重型地贫的出生。Objective： To explore the value of hemoglobin electrophoresis combined with thalassemia gene detection in the clinical diagnosis of patients with thalassemia. Methods： From February 2015 to November 2016, 11069 couples were admitted to our hospital for the first time. In the case of MCV ≤ 82fl or MCH ≤27pg, the couple had both hemoglobin electrophoresis analysis. If both hemoglobin electrophoresis results were abnormal, then accept the thalassemia gene detection, observation of subjects with hemoglobin electrophoresis detection of HBA value, HBA2 value, HBF value and thalassemia gene detection results. Results： A total of 466 couples were tested for thalassemia gene by blood clotting and hemoglobin electrophoresis. Among them, 580 patients were α-thalassemia carders and 45 were carriers and 166 patients with β-thalassemia, Both couples were carders in 9 cases. Hemoglobin electrophoresis showed that the HBA and HBA2 values of patients with α-thalassemia and β-thalassemia were lower than those of negative （P〈0.05） , and HBF was higher than that of negative （P〈0.05） . Conclusion： Hemoglobin electrophoresis has a good application value in the diagnosis of thalassemia, but it can be used in combination with thalassemia gene detection to further improve the detection rate of thalassemia. It is worthy of major hospitals to apply.

关 键 词：血红蛋白电泳 地中海贫血 基因检测 血常规 诊断价值 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]