目的 探讨重庆市长寿地区人群中地中海贫血(以下简称地贫)基因分布情况及血常规参数特征.方法 以 2018 年6 月至 2023 年 3 月送至重庆市长寿区人民医院检验科的共 4126 例样本为研究对象.样本均进行血常规和地中海贫血基因检测.血常规参数包括:红细胞计数(red blood cell,RBC)、血红蛋白(hemoglobin,Hb)、平均红细胞体积(mean corpuscu larvolume,MCV)、平均红细胞血红蛋白量(mean corpuscu larhemoglobin,MCH)、平均红细胞血红蛋白浓度(mean corpuscu larhemoglobin concentration,MCHC)、红细胞分布宽度-CV(redblood cell distribution width CV,RDW-CV)、红细胞分布宽度-SD(redblood cell distribution width SD,RDW-SD).地中海贫血基因检测采用单管多重聚合酶链反应法结合反向斑点膜条杂交技术进行.分析本地区地中海贫血基因型别和血常规参数特征.结果 4126 例样本中,共检测出α、β地中海贫血 408 例,检出率为 9.89%.其中α地贫 255 例,以缺失型-α3.7/-αα最为常见,检出 2 例--SEA/-α3.7,1 例--SEA/HKαα;β地贫 153 例,以CD17 占比最高.缺失型-α3.7/αα、--SEA/αα、-α4.2/αα及突变型ααCS/αα 地贫中MCV、MCH、MCHC均较对照组降低,差异有统计学意义(P<0.05).CD17、CD41-42、Ivs-2-654 组别中红细胞参数MCV、MCH、MCHC均低于对照组,参数 RBC、RDW-CV 及 RDW-SD 均明显高于对照组,差异有统计学意义(P<0.05).结论 重庆市长寿区地贫基因型别以-α3.7/αα、--SEA/αα、-α4.2/αα、CD17、CD41-42、Ivs-2-654 基因型为主,红细胞参数对地贫筛查具有重要临床意义.
Objective To investigate the distribution of the thalassemia genotypes and the characteristics of blood cell parameters in Changshou District,Chongqing.Methods Totally 4126 samples sent to our hospital were studied from June 2018 to March 2023.All samples were detected for thalassemia genotype and blood cells.The parameters of blood cells:redblood cell(RBC),hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC),red blood cell distribution width CV(RDW-CV),red blood cell distribution width SD(RDW-SD)were detected.Gap polymerase chain reaction(Gap-PCR)combined with reverse dot blot hybridization were used to detect alpha and beta thalassemia genotype.The rate and distribution characteristics of thalassemia gene in Changshou district were analyzed.Results Among 4126 samples,408 cases of α and β thalassemia were detected,accounting for 9.89%.Among these,there were 255 α-thalassemia cases.-α3.7/αα was the most common genotype.Two cases of--αSEA/-α3.7 and one cases of--SEA/HKαα were also detected.There were 153 cases of β-thalassemia and CD17 accounted for the highest proportion.The date of MCV,MCH,MCHC in-α3.7/αα,--SEA/αα,-α4.2/αα and ααCS/αα groups was significantly difference compared with control group(P<0.05).Parameters of MCV and MCH in CD17,CD41-42 and Ivs-2-654 groups were lower than those in control group(P<0.05),while RBC,RDW-CV and RDW-SD were higher than those in control group,the difference was statistically significant.Conclusion The most common genotype in thalassemia were-α3.7/αα,--SEA/αα,-α4.2/αα,CD17,CD41-42 and Ivs-2-654 in Changshou District,Chongqing.The parameters of MCV,MCHC,MCH,Hb,RBC,RDW-CV and RDW-SD have important clinical significance for the screening of thalassemia.
曾建涛;聂珂;代涛;粟玉凤
重庆市长寿区人民医院检验科,重庆 401220
基础医学
地中海贫血;红细胞参数;基因型
Thalassemia;Red blood cell parameters;Genotype
《中国现代医生》 2024 (002)
38-40 / 3
重庆市长寿区科技计划项目(CSKJ038,CSKJ2022034)
10.3969/j.issn.1673-9701.2024.02.009
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