咸宁市地中海贫血的基因突变类型及血液学特征分析  

Analysis of Gene Mutation Types and Hematological Characteristics of Thalassemia in Xianning City

作　　者：葛仁英[1] 熊婷 刘盼 邓福维 GE Ren-ying;XIONG Ting;LIU Pan(Department of Hematology,Xianning Central Hospital,Xianning Hubei 437100,China)

机构地区：[1]咸宁市中心医院/湖北科技学院附属第一医院血液内科,湖北咸宁437100

出　　处：《湖北科技学院学报(医学版)》2025年第1期39-42,共4页Journal of Hubei University of Science and Technology(Medical Sciences)

摘　　要：目的通过描述性研究全面了解咸宁市人群地中海贫血患者的检出率、基因突变类型、分布特征、性别差异以及血液学特征。方法收集我院门诊及住院治疗中进行地中海贫血基因检测的患者共3105例,采集所有纳入研究样本人群的EDTA抗凝血,进行血常规检测,同时用PCR-反向点杂交法检测α和β地中海贫血基因,通过显色的方式判断样本基因型。结果3105例样本中经地贫基因检测确诊地中海贫血的患者223例,阳性检出率为7.18%。其中男32例,女191例,在性别分布上无明显差异(Χ^(2)=0.189,P=0.663)。确诊患者中α-地贫基因阳性样本为占125例,为56.05%;β-地贫基因阳性样本占95例,为42.60%;另外αβ-地贫基因阳性样本仅占3例,为1.35%。本研究共检测出8种α-地中海贫血基因型,主要的基因型是-α3.7/αα、--SEA/αα和-α4.2/αα,分别占45.60%、37.60%和9.60%,占所有α地中海贫血突变携带者的92.80%;β-地中海贫血基因型共检测出11种,主要的基因型是β654/βN、β41-42/βN和β17/βN,分别占43.16%、28.43%和9.47%;αβ-复合型地贫共检测出3例,基因型分别为-α3.7/αα&β41-42βN、--SEA/αα&β41-42/βN、-α4.2/αα&βIVS-Ⅱ-654/βN。对正常组、α-地贫组、β-地贫组的相关血液学指标包括血红蛋白(Hb)、平均红细胞体积(MCV)、平均血红蛋白量(MCH)、平均血红蛋白浓度(MCHC)进行比较,差异有统计学意义(P<0.05)。结论咸宁市地贫阳性检出率及基因型与湖北省其他地区有差异,检测地贫基因,对提高咸宁区域地贫防治进而引导优生优育可提供帮助,并且血常规中红细胞相关参数对于地贫的筛查具有临床意义。Objective To comprehensively understand the positive rate,mutation types,distribution characteristics,gender differences and hematology characteristics of thalassemia patients in the population of Xianning City through descriptive research.Methods A total of 3105 patients who underwent gene testing for thalassemia in our outpatient and inpatient clinics at our hospital were collected.EDTA anticoagulated blood was collected from all the sample population included in the study for routine blood tests.PCR-reverse dot hybridization was used to detectαandβthalassemia genes,and the sample genotype was determined by color development.Results Among the 3105 samples,223 patients were diagnosed with thalassemia by genetic testing for thalassemia,with a positive detection rate of 7.18%.Among them,32 were males and 191 were females,with no significant difference in gender distribution(χ^(2)=0.189,P=0.663).Among the confirmed patients,125 cases were positive forβ-thalassemia gene,accounting for 56.05%;95 cases were positive forβ-thalassemia gene,accounting for 42.60%.Only 3 cases were positive forαβ-thalassemia gene,accounting for 1.35%.A total of 8 genotypes ofα-thalassemia were detected in this study,the top ranked genotype is-α3.7/αα,--SEA/ααandα4.2/αα,accounting for 45.60%,37.60%,and 9.60%respectivelyandaccounting for 92.80%of allα-thalassemia gene carriers.A total of 11 genotypes ofβ-thalassemia were detected,with the top ranking beingβ654/βN,β41-42/βN andβ17/βN,accounting for 43.16%,28.43%,and 9.47%respectively.Three cases ofαβ-compound poverty were detectedwith genotypes as follows:-α3.7/αα&β41-42βN,--SEA/αα&β41-42/βN,-α4.2/αα&βIVS-Ⅱ-654/βN.The relevant hematological indicators including hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)were compared among the normal group,α-thalassemia group,andβ-thalassemia group,and the differences were statistically significant(P<0.05).Conclusion The positive detect

关 键 词：地中海贫血 基因突变 血液学参数 

分 类 号：R552[医药卫生—血液循环系统疾病]