黔南州449例地中海贫血患者血红蛋白电泳结果及基因突变类型分析  

Analysis of the Hemoglobin Electrophoresis Results and Gene Mutation Types of 449 Patients with Thalassemia in Qiannan

作　　者：樊永娜 FAN Yongna(Department of Clinical Laboratory,the People's Hospital of Qiannan,Duyun 558000,China)

机构地区：[1]黔南州人民医院检验科,都匀558000

出　　处：《中国医药指南》2024年第15期51-54,共4页Guide of China Medicine

摘　　要：目的 分析黔南州地区地中海贫血成人、儿童患者的血红蛋白A_(2)含量和基因突变分布特征。方法 收集2022年9月至2024年1月于我院接受血红蛋白电泳、地中海贫血基因检测,并确诊为地中海贫血的449例患者(儿童85例,成人364例)为研究对象,对其血红蛋白A_(2)含量和基因突变类型分布情况进行回顾性研究分析。结果 449例确诊为地中海贫血的患者中,α-地中海贫血247例(55.01%),β-地中海贫血186例(41.43%),α/β-复合地中海贫血16例(3.56%),成人以α-地中海贫血为主,儿童以β-地中海贫血为主。263例α-地中海贫血基因携带者中共检出16种基因型,其中--^(SEA)/αα基因型最常见(127例,48.29%),其后依次为-α^(3.7)/αα(67例,占25.48%)、α^(CS)α/αα(20例,7.60%)、-α^(4.2)/αα(19例,7.22%);202例β-地中海贫血基因携带者中检出9种基因型,其中β^(N)/β^(CD17)最常见(119例,58.91%),其次为β^(N)/β^(CD41-42)(67例,33.17%)。α、β-地中海贫血患者的HbA_(2)的含量分别为[2.20(2.10,2.30)]%、[5.20(4.90,5.40)]%,差异具有统计学意义(P<0.05);儿童与成人α、β-地中海贫血患者的HbA_(2)的含量比较,差异均无统计学意义(P>0.05)。结论 黔南地区成人、儿童地中海贫血患者的基因型复杂,均以--^(SEA)/αα和β^(N)/β^(CD17)为主;成人、儿童血红蛋白A_(2)含量无明显差异。Objective To analyze the hemoglobin A_(2) content and gene distribution characteristics of adult and child patients with thalassemia in Qiannan.Methods 449 patients(85 children and 364 adults)diagnosed with thalassemia who received hemoglobin electrophoresis and thalassemia gene detection in our hospital from September 2022 to January 2024 were selected as the research objects,and which hemoglobin A_(2) content and distribution of gene mutation types were analyzed.Results Among 449 patients diagnosed with thalassemia,there were 247 cases(55.01%)ofα-thalassemia,186 cases(41.43%)ofβ-thalassemia and 16 cases(3.56%)ofα/β-thalassemia.The majority of adults wereα-thalassemia and the majority of children wereβ-thalassemia.A total of 16 genotypes were detected in 263α-thalassemia gene carriers,among which--^(SEA)/ααgenotype was the most common(127 cases,48.29%),followed by-α3.7/αα(67 cases,25.48%),αcsα/αα(20 cases,7.60%),and-α4.2/αα(19 cases,7.22%).9 genotypes were detected in 202β-thalassemia gene carriers of whichβ^(N)/β^(CD17) was the most common(119 cases,58.91%),followed byβ^(N)/β^(CD41-42)(67 cases,33.17%).The content of HbA_(2) inα-thalassemia,β-thalassemia patients were[2.20(2.10,2.30)]%and[5.20(4.90,5.40)]%,respectively,and the difference was statistically significant(P<0.05).Comparison of HbA_(2) content between children and adults withα,β-thalassemia showed no statistically significant difference(P>0.05).Conclusions The genotypes of adults and children thalassemia patients in Qiannan are complex,mainly dominated by-^(SEA)/ααandβ^(N)/β^(CD17).There was no significant difference in hemoglobin A_(2) content between adults and children.

关 键 词：黔南州 地中海贫血 血红蛋白电泳 基因型 

分 类 号：R556[医药卫生—血液循环系统疾病]