河南省83例β-地中海贫血基因携带者及患者的基因型与血液学特征分析  

Genotypic and hematological characteristics of 83β-thalassemia mutation carriers and patients from Henan Province

作　　者：王玮琳 赵晓明[1] 白松婷[1] 王璐[1] 王春美[1] 姚强华[1] 李白[1] 王叨[1] Wang Weilin;Zhao Xiaoming;Bai Songting;Wang Lu;Wang Chunmei;Yao Qianghua;Li Bai;Wang Dao(Department of Pediatrics,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,郑州450052

出　　处：《中华医学遗传学杂志》2022年第7期674-679,共6页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关省部共建重点项目(SBGJ202002114)。

摘　　要：目的分析河南地区β-地中海贫血患者和基因携带者的基因类型与血液学特征。方法收集2016年8月至2021年11月于郑州大学第一附属医院诊断为β-地中海贫血患者或基因携带者的临床资料,分析其血常规、血红蛋白电泳、基因检测结果。结果83例β-地中海贫血患者或基因携带者中,女性46例,男性37例,年龄生后5个月至83岁,平均年龄(27.37±14.71)岁。共检出13种β-地中海贫血等位基因共计86个,前3位分别为IVS-Ⅱ-654(C>T)(33.72%)、CD41-42(-TTCT)(26.74%)、CD17(A>T)(18.60%),包括5种罕见基因:CD8-9(+G)、IVS-Ⅱ-1(G>A)、CD42(T>G)、Initiation codon ATG>AGG和Initiation codon ATG>ACG。其中,HBB:c.128T>G(CD42 T>G)为国内首次检出的突变类型。13种β-地中海贫血等位基因共组成15种基因型,包括12种单纯杂合子(80例,占96.40%)、2种复合杂合子(2例,占2.40%)、1种纯合子(1例,占1.20%)。血液学主要表现为轻度小细胞低色素性贫血以及HbA2增高。与β^(+)/β^(N)基因型携带者相比,β0/βN基因型携带者的MCV、MCH明显降低,HbA2明显增高,差异有统计学意义(P<0.05)。结论β-地中海贫血在河南地区并不少见,其特点与高发地区不同,需引起足够重视。HBB:c.128T>G(CD42 T>G)丰富了中国人群的β-地中海贫血突变谱。本研究为河南省β-地中海贫血的遗传咨询和产前诊断服务提供参考。Objective To investigate the genotypic and hematological characteristics ofβ-thalassemia patients and carriers from Henan Province of China.Methods Clinical data of the patients and carriers were collected.Results of routine blood test,hemoglobin electrophoresis and genetic testing were retrospectively analyzed.Results Of the 83β-thalassemia patients and carriers,there were 46 females and 37 males,and their mean age was 27.37±14.71,ranging from 5 months to 83 years.A total of 13 types ofβ-thalassemia alleles(86 alleles in total)were detected,with the most common three including IVS-Ⅱ-654(C>T)(33.72%),CD41-42(-TTCT)(26.74%)and CD17(A>T)(18.60%).Five rare alleles,including CD8-9(+G),IVS-Ⅱ-1(G>A),CD42(T>G),and start codons ATG>AGG and ATG>ACG were identified.Among these,HBB:c.128T>G(CD42T>G)was previously unreported in China.Fifteenβ-thalassemia genotypes were detected,which included 12 simple heterozygote genotypes(80 cases,96.40%),2 double heterozygote genotypes(2 cases,2.40%)and 1 homozygote genotype(1 case,1.20%).The main manifestations were mild microcytic hypochromic anemia and raised HbA2.Compared with those with aβ^(+)/β^(N) genotype,carriers with aβ0/βN genotype have lower mean corpuscular volume(MCV)and mean corpusular hemoglobin(MCH)but higher HbA2(P<0.05).Conclusionβ-thalassemia is not rare in Henan Province and its characteristics are different from those in high incidence areas,which deserves close attention.The newly discovered HBB:c.128T>G(CD42T>G)has enriched the spectrum ofβ-thalassemia mutations in China.Above results will also facilitate genetic counseling and prenatal diagnosis ofβ-thalassemia in Henan Province.

关 键 词：地中海贫血 基因型 血液学特征 河南省 

分 类 号：R556.61[医药卫生—血液循环系统疾病]