多重聚合酶链反应在α-珠蛋白生成障碍性贫血诊断中的应用

Application of multiplex polymerase chain reaction in the diagnosis of α-thalassemia

目的探讨应用多重聚合酶链反应(PCR)技术在缺失型α-珠蛋白生成障碍性贫血(HbH)患者基因类型快速诊断中的价值。方法选择沈阳医学院奉天医院2006年1月至2012年1月收治入院,采用多重PCR进行HbH检测的疑似HbH患者202例的临床资料进行回顾性分析,并对样本进行基因类型测序及血液实验学参数分析。结果本研究中疑似为HbH的202份临床标本,基因检测证实其中136例为HbH。与PCR检测相比,一管法红细胞脆性、平均红细胞容积、平均红细胞血红蛋白含量与红细胞分布宽度变异系数检测的灵敏度分别为85.29%、99.44%、73.53%和61.03%,特异性分别为69.70%、66.67%、62.12%和60.61%。在136例HbH患者中--SEA/αα104例、-α3.7/αα14例、-α4.2/αα4例、-α3.7/--SEA 11例和-α4.2/--SEA 3例,分别占76.47%、10.29%、2.94%、8.09%和2.21%。结论多重PCR方法能快速检测HbH基因型,尤其是HbH的双重HbH基因型,操作简便,结果准确,可应用于临床HbH的基因型检测,尤其适用于大规模人群的HbH基因型筛查。

Objective To investigate the application of multiplex polymerase chain reaction（PCR） technique in deletion α-thalassemia（HbH） patients with gene type rapid diagnosis value.Methods From January 2006 to January 2012,retrospective analysis clinical data of multiplex PCR for detection of 202 cases in patients with suspected for α-thalassemia in the hospital,and the samples were analyzed for gene sequencing and experimental hematology parameters.Results 136 cases were proved to be α-thalassemia by gene detection in 202 cases with suspected for α-thalassemia.And PCR detection compared to a tube method,the sensitivity of erythrocyte fragility,MCV,MCH and RDW-CV was 85.29%,99.44%,73.53% and 61.03% respectively,the specificity of that was 69.70%,66.67%,62.12% and 60.61%.In 136 patients with α-thalassemia,——SEA/αα 104 cases、——α3.7/αα 14 cases、——α4.2/αα 4 cases、——α3.7/——SEA 11 cases and-α4.2/——SEA 3 cases,accounting for 76.47%,10.29%,2.94%,8.09% and 2.21% respectively.Conclusion The multiplex PCR method can rapidly detect α-thalassemia genotypes,especially HbH α-thalassemia dual genotype.Operation is simple and accurate,can be applied to clinical detection of genotype of α-thalassemia,especially in large population ofα-thalassemia genotype screening.