温州市儿童地中海贫血住院患儿的基因型与表型分析  

Genotype and phenotype analysis of hospitalized children with thalassemia in Wenzhou city

作　　者：朱丽丹[1] 徐晓杰[1] 陈允国 倪莉 ZHU Li-dan;XU Xiao-jie;CHEN Yun-guo;NI Li(Department of Laboratory Medicine,the Affiliated Yuying Children’s Hospital of Wenzhou Medical University,Zhejiang 325000,China)

机构地区：[1]温州医科大学附属育英儿童医院医学检验中心,浙江325000

出　　处：《中国卫生检验杂志》2023年第18期2281-2284,2288,共5页Chinese Journal of Health Laboratory Technology

基　　金：温州市科研计划项目(Y20210728)。

摘　　要：目的了解温州市儿童地中海贫血的基因分布特点及表型特征。方法选取温州医科大学附属育英儿童医院住院的地中海贫血患儿共220例,回顾性分析其地中海贫血基因分布特点、血液学指标、患儿肝脾肿大及籍贯分布。结果220例地中海贫血患儿中,α-地中海贫血98例,β-地中海贫血117例,α复合β地中海贫血5例。α-地中海贫血基因型共7种,--^(SEA)/αα最常见,构成比为52.04%,其次为-α^(3.7)/αα(20.41%)、--^(SEA)/-α^(3.7)(15.31%);β-地中海贫血基因型共20种,最常见的3种为CD41-42/N(30.77%)、IVS-II-654/N(28.21%)、CD17/N(12.82%)。除α-地中海贫血静止型组的RBC外,地中海贫血各组血液学参数与对照组比较,差异均有统计学意义。地中海贫血不同基因类型都有概率发生肝脾肿大,而中间型β-地中海贫血发生肝脾肿大的概率最高(73.33%)。籍贯为温州的患儿超过50%,以苍南县构成比最高。结论温州儿童地中海贫血基因分布稍不同于地中海贫血高发区,不同基因类型地中海贫血拥有各自特点的血液学特征,苍南县为温州地中海贫血相对高发区。Objective This paper aims to understand the characteristics of gene distribution and phenotype of thalassemia in children in Wenzhou city.Methods A total of 220 children with thalassemia hospitalized in the Affiliated Yuying Children’s Hospital of Wenzhou Medical University were selected to retrospectively analyze the characteristics of thalassemia gene distribu⁃tion,hematological parameters,hepatosplenomegaly of the children and the distribution of their parents'native place.Results Among 220 children with thalassemia,there were 98 cases ofα-thalassemia,117 cases ofβ-thalassemia,and 5 cases ofαβ-thalassemia.There were 7 types ofα-thalassemia genotypes,and the most common was--^(SEA)/αα,with a com⁃position ratio of 52.04%,followed by-α^(3.7)/αα(20.41%),-^(SEA)/-α^(3.7)(15.31%).There were 20 genotypes ofβ-thalas⁃semia,and the most common three genotypes were CD41-42/N(30.77%),IVS-II-654/N(28.21%),and CD17/N(12.82%).In addition to the RBC of theα-thalassemia quiescent group,the hematological parameters of the thalassemia groups were statistically significant compared with the normal control group.Different clinical phenotypes of thalassemia had the probability of hepatosplenomegaly,while the intermediate typeβ-thalassemia had the highest probability of hepatosplenomegaly(73.33%).More than 50%of the children were born in Wenzhou,and Cangnan County had the highest proportion.Conclu⁃sion The distribution of thalassemia genes in Wenzhou children was slightly different from that in high incidence areas of thalassemia.Children with thalassemia had their own hematological characteristics,and Cangnan County is a relatively high incidence area of thalassemia in Wenzhou.

关 键 词：地中海贫血 基因分析 血液学指标 籍贯 

分 类 号：R556.31[医药卫生—血液循环系统疾病]