内江地区地中海贫血基因分型及血液学特征研究  

Study on Genotyping and hematological characteristics of thalassemia in Neijiang area

作　　者：张有辉[1] 万小涛[1] 钟方财[1] 钟晓明[1] 李幼萍 李运鸾 黄波[1] ZHANG Youhui;WAN Xiaotao;ZHONG Fangcai;ZHONG Xiaoming;LI Youping;LI Yunluan;HUANG Bo(Department of Clinical Laboratory,the First People′s Hospital of Neijiang,Neijiang,Sichuan 641000,China)

机构地区：[1]内江市第一人民医院检验科,四川641000

出　　处：《现代医药卫生》2020年第6期816-817,820,共3页Journal of Modern Medicine & Health

基　　金：四川省内江市科学技术局科技支撑计划项目(内市科知计函〔2015〕117号)。

摘　　要：目的 探讨内江地区地中海贫血(地贫)基因型及血液学特征。方法 选取2016年1月至2018年11月该院产科门诊进行产前健康检查的受检者226例,经地贫基因分型分为α-地贫组(72例)、β-地贫组(72例)和对照组(82例)。比较3组平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)及红细胞体积分布宽度(RDW)变异系数(CV)变化情况,并对α、β-地贫组基因型构成情况进行分析。结果 α、β-地贫组MCV、MCH及MCHC水平均明显低于对照组,而RDW-CV水平明显高于对照组,差异均有统计学意义(P <0.05)。α-地贫组中,最常见的基因缺失类型为--SEA型(73.6%)。β-地贫组中,前3种基因突变类型依次为CD41/42(31.9%)、IVS-Ⅱ-654(30.6%)、CD17(20.8%)。结论 内江地区的地贫基因突变类型以--SEA型和CD41/42型为主。地贫患者红细胞相关指标检测可为产前诊断提供一定依据。Objective To explore the genotype and hematological characteristics of thalassemia in Neijiang area.Methods From January 2016 to November 2018,226 patients were selected from the obstetric clinic of the hospital for prenatal health examination.The patients were divided intoα-thalassemia group(72 cases),β-thalassemia group(72 cases)and control group(82 cases).The changes of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)and red blood cell volume distribution width(RDW)coefficient of variation(CV)were compared among the three groups,and the genotype composition of theα-thalassemia group and theβ-thalassemia group was analyzed.Results The levels of MCV,MCH and MCHC in theα-thalassemia group and theβ-thalassemia group were significantly lower than those in the control group,while the levels of RDW-CV in theβ-thalassemia group were significantly higher than those in the control group.In theα-thalassemia group,the most common type of gene deletion was--SEA(73.6%).In theβ-thalassemia group,the first three gene mutation types were CD41/42(31.9%),IVS-Ⅱ-654(30.6%),CD17(20.8%).Conclusion In Neijiang area,--SEA and CD41/42 are the main mutations of thalassemia gene.The detection of red blood cell related indexes in thalassemia patients can provide certain basis for prenatal diagnosis.

关 键 词：地中海贫血 基因型 内江地区 产前诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]