全自动血红蛋白分析仪在地中海贫血筛查诊断中的应用  

Application of full-automatic hemoglobin analyzer in the screening and diagnosis of thalassemia

作　　者：马升俊[1] 肖永君[1] 韦子斌[1] 许成良[1] 

机构地区：[1]南宁市第二人民医院检验科,广西南宁530031

出　　处：《中国医药导报》2013年第9期92-93,96,共3页China Medical Herald

摘　　要：目的探讨采用高效液相色谱法(HPLC)的全自动血红蛋白分析仪在地中海贫血(简称地贫)筛查诊断中的应用。方法用全自动血红蛋白分析仪及其配套试剂对5738例受检样本进行血红蛋白分析,对筛查出的830例异常结果的样本采用多重聚合酶链反应(PCR)和反向斑点杂交法(RDB)进行地贫基因检测,比较其符合率。结果 5738例受检者中,共筛查出830例异常,检出率为14.46%;其中,拟诊α地贫480例,占57.83%;拟诊β地贫316例,占38.07%;拟诊β复合α地贫11例,占1.33%;检出异常区带HbH 13例,HbE 8例,HbQ2例,分别占1.57%、0.96%和0.24%。经地贫基因分析,确诊743例,确诊率为89.52%;其中,α地贫413例,占55.59%,符合率为86.04%;β地贫313例,占42.13%,符合率为99.05%;β复合α地贫17例,占2.29%,符合率为90.91%。结论采用HPLC技术的全自动血红蛋白分析仪对β地贫的诊断有良好的符合性,对α地贫有一定的提示作用,可用于地贫的筛查诊断。Objective To investigate the application of full-automatic hemoglobin analyzer using high performance liq- uid chromatography （HPLC） in the screening and diagnosis of thalassemia. Methods The hemoglobin of 5738 testing samples were analyzed by using full-automatic hemoglobin analyzer and its supplementary reagents. 830 samples screened out with abnormal resuhs were conducted gene detection Of thalassemia by using multiplex polymerase chain reaction （PCR） and reverse dot blot （RDB）, and its coincidence rate was compared. Results In the 5738 subjects, 830 cases were abnormal with a detectable rate of 14.46%, and 480 cases of them were suspected as α thalassemla （57.83%）, 316 cases were suspected as β thalassemia （38.07%）, 11 cases were suspected as β compound α tha lassemia （1.33%）. 13 cases detected abnormal zone with HbH, HbE in 8 cases, HbQ in 2 cases, respectively accounting for 1.57%, 0.96% and 0.24%. After thalassemia gene analysis, 743 patients were diagnosed with diagnosis rate of 89.52%. 413 cases were ot thalassemia （55.59%）, the coincidence rate was 86.04%. 313 cases were β thalassemia （42.13%）, the coincidence rate was 99.05%. 17 cases were β compound ot thalassemia （2.29%） with the coincidence rate of 90.91%. Condusion The full-automatic hemoglobin analyzer using HPLC technology has a good compliance in the diagnosis of β thalassemia, and it has certain assistance in the diagnosis of α thalassemia. It can be used for the screening and diagnosis of thalassemia.

关 键 词：地中海贫血 高效液相色谱法 血红蛋白分析 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]