中国现代医生2024，Vol.62Issue(2)：38-40,3.DOI:10.3969/j.issn.1673-9701.2024.02.009
重庆市长寿区地中海贫血基因及血常规参数特征分析
Screening genotype and blood routine parameters of Thalassemia in Changshou District Chongqing
摘要
Abstract
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.关键词
地中海贫血/红细胞参数/基因型Key words
Thalassemia/Red blood cell parameters/Genotype分类
医药卫生引用本文复制引用
曾建涛,聂珂,代涛,粟玉凤..重庆市长寿区地中海贫血基因及血常规参数特征分析[J].中国现代医生,2024,62(2):38-40,3.基金项目
重庆市长寿区科技计划项目(CSKJ038,CSKJ2022034) （CSKJ038,CSKJ2022034）
