惠阳地区地中海贫血罕见基因突变型检出情况分析  

Analysis on the Detection of Rare Thalassemia Mutant Phenotypes in Huiyang Area

作　　者：王健 谢国生 叶秋香 吴岸晓 陈俊伟 何晓清 WANG Jian;XIE Guosheng;YE Qiuxiang;WU Anxiao;CHEN Junwei;HE Xiaoqing(Department of Laboratory,Huizhou Huiyang District Maternal and Child Health Hospital,Huizhou,516002,China;Department of Obstetrics,Huizhou Huiyang District Maternal and Child Health Hospital,Huizhou 516002,China)

机构地区：[1]惠州市惠阳区妇幼保健院检验科,惠州516002 [2]惠州市惠阳区妇幼保健院产科,惠州516002

出　　处：《中国医药指南》2024年第36期1-5,共5页Guide of China Medicine

基　　金：惠州市医疗卫生领域科技计划项目(2022CZ010318)。

摘　　要：目的调查分析惠阳地区地中海贫血罕见基因突变型检出情况,为临床诊断和筛查地中海贫血罕见基因突变型提供参考。方法该研究总共纳入4214例研究对象,均是2022年6月至2023年12月惠阳地区各医疗机构及婚检中心送至我院的地中海贫血基因受检者,均通过PCR+导流杂交法、琼脂糖凝胶电泳、Sanger测序法进行地中海贫血基因筛查与检测,观察并分析检测结果。结果4214例地中海贫血基因受检者中,有1388例患者检测出地中海贫血基因,检出率为32.94%(1388/4214)。1388例地中海贫血基因样本中,α地中海贫血基因共921例,检出率为21.86%(921/4214);β地中海贫血基因共407例,检出率为9.66%(407/4214);α合并β地中海贫血基因共60例,检出率为1.42%(60/4214)。男性地中海贫血基因共650例,检出率为34.28%(650/1896);女性地中海贫血基因共738例,检出率为31.84%(738/2318);男女地中海贫血基因检出率对比差异无统计学意义(χ2=2.822,P=0.093)。4214例检测样本中,罕见型地中海贫血共检出44例,检出率为1.04%(44/4214),其中α珠蛋白基因突变20例(检出率0.47%)、β珠蛋白基因突变23例(检出率0.55%)、α复合β珠蛋白基因突变1例(检出率0.02%)。α珠蛋白基因罕见突变共包括13种类型,以IVSⅡ-55 T>G位点突变杂合子、HKαα、CD30-GAG位点杂合突变子和--THAI为主。β珠蛋白基因罕见突变共包括13种类型,以ChineseGγ+(Aγδβ)0、CD 113 GTG>GAG位点突变杂合子和Southeast Asian(Vietnamese)deletion为主。α复合β珠蛋白基因罕见突变共包括1种类型,α基因IVSⅡ-55 T>G位点突变杂合子合并β基因IVSⅡ-180 T>C位点突变杂合子共1例(检出率2.22%)。结论惠阳地区地中海贫血的发病率较高,地中海贫血基因类型较为复杂,其中α地中海贫血基因、β地中海贫血基因是常见类型,而罕见型地中海贫血基因的占比相对较低。虽然罕见型地中海贫血基因的占比不高,但惠阳地�Objective To investigate and analyze the detection of thalassemia rare gene mutation types in Huiyang area,and to provide reference for clinical diagnosis and screening of thalassemia rare gene mutation types.Methods A total of 4214 cases were included in the study,all of which were thalassemia gene recipients sent to our hospital by various medical institutions and marriage examination centers in Huiyang area from June 2022 to December 2023,and all of them were screened for thalassemia gene by PCR+flow-through hybridization,agarose gel electrophoresis,and Sanger sequencing,and the results of the screening were observed and analyzed.Results Among the 4214 patients tested for geopenia genes,geopenia genes were detected in 1388 patients,with a detection rate of 32.94%(1388/4214).Among the 1388 samples of geopenia genes,there were 921 cases ofα-geopenia genes,with a detection rate of 21.86%(921/4214),and there were 407 cases ofβ-geopenia genes,with a detection rate of 9.66%(407/4214).There were 60 cases ofα-combined withβ-geographic anemia,with a detection rate of 1.42%(60/4214).There were 650 cases of male geopoverty gene,with a detection rate of 34.28%(650/1896),there were 738 cases of female geopoverty gene,with a detection rate of 31.84%(738/2318),the difference between the detection rates of male and female geopoverty gene was not statistically significant(χ2=2.822,P=0.093).Among the 4214 samples tested,44 cases of rare forms of anemia were detected,with a detection rate of 1.04%(44/4214),including 20 cases ofα-bead protein gene mutation(detection rate 0.47%),23 cases ofβ-bead protein gene mutation(detection rate 0.55%),and 1 case ofα-complexβ-bead protein gene mutation(detection rate 0.02%).Rare mutations in theα-ballad protein gene included 13 types,dominated by IVSⅡ-55 T>G site mutant heterozygotes,HKαα,CD30-GAG site heterozygous mutants,and--THAI.β-ballad protein gene rare mutations included 13 types,dominated by ChineseGγ+(Aγδβ)0,CD 113 GTG>GAG site mutant heterozygotes,and Southeast Asi

关 键 词：地中海贫血 惠阳地区 罕见基因突变型 

分 类 号：R556[医药卫生—血液循环系统疾病]