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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 investigate the value of hemoglobin electrophoresis combined with thalassemia gene detection in the clinical diagnosis of thalassemia patients. Methods The samples of 11069 couples receiving premarital examination in our hospital from February 2015 to November 2016 were collected and blood routine tests were performed. If the couple had MCV≤82fl or MCH≤27pg, the two parties conducted hemoglobin electrophoresis analysis, If both hemoglobin electrophoresis results were abnormal, then they were all tested for thalassemia gene. HBA, HBA2, HBF and thalassemia gene test results of hemoglobin electrophoresis were observed. Results After blood tests and hemoglobin electrophoresis were screened, a total of 466 couples underwent genetic testing for thalassemia, of which 580 were carriers of α-thalassemia, 45 were carriers of both couples, 166 were carriers of β-thalassemia, The couple were carriers of 9 cases. The results of hemoglobin electrophoresis showed that the values of HBA and HBA2 in patients with α-thalassemia and β-thalassemia were lower than those with negative (P <0.05), and those with HBF were higher than those with negative (P <0.05). Conclusion Hemoglobin electrophoresis is a valuable tool for the diagnosis of thalassemia. However, combined with thalassemia gene detection, the detection rate of thalassemia can be further increased and the incidence of thalassemia major can be reduced.