中国福建泉州地区儿童α和β地中海贫血基因分析  

Genetic Testing for Alpha and Beta Thalassemia in Children in Quanzhou Region of Fujian Province in China

作　　者：黄世杰[1] 陈文莉 庄建龙 庄倩梅 曾建兴[1] 王元白 HUANG Shi-Jie;CHEN Wen-Li;ZHUANG Jian-Long;ZHUANG Qian-Mei;ZENG Jian-Xing;WANG Yuan-Bai(Department of Laboratory,Jinjiang Municipal Hospital,Jinjiang 362200,Fujian Province,China;Prenatal Diagnosis Center,Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省晋江市医院检验科,福建晋江362200 [2]福建省泉州市妇幼保健院儿童医院产前诊断中心,福建泉州362000

出　　处：《中国实验血液学杂志》2021年第4期1266-1270,共5页Journal of Experimental Hematology

基　　金：泉州市科技计划项目(2020N049s)。

摘　　要：目的:分析泉州地区小儿地中海贫血(简称地贫)基因突变类型及分布情况,为本地区地贫防控提供参考。方法:收集2014年1月至2020年4月泉州地区疑似地贫患儿1 302例,采用跨越断裂点PCR检测缺失型α地贫,采用DNA反向斑点杂交技术检测α和β地贫点突变。结果:1 302例疑似地贫患儿中共检出地贫携带者667例,阳性检出率约51.23%。检出α-地贫基因携带者380例,以--^(SEA)/αα为主(69.21%),中间型α-地贫42例,其中以-α^(3.7)/--^(SEA)较为常见;检出β-地贫274例,以β IVS-Ⅱ-654/β^(N)(35.40%)和β^(CD41-42)/β^(N)(33.94%)为主,检出中/重型β地贫17例,以β^(IV-Ⅱ-654)/β^(IVS-Ⅱ-654)和β^(IVS-Ⅱ-654)/β^(CD17)为主;同时检出α复合β地贫13例。其中,1例Term CD+32罕见β-地贫基因突变为福建省首次报道,1例CD14-15突变为泉州地区首次报道。另外,鉴定了 3例异常血红蛋白,其中2例为Hb Q-Thailand,1例为Hb G-Honolulu。结论:泉州地区儿童地贫突变类型多样且中/重型地贫患儿较多,需进一步加强地贫防控,减少中/重型地贫患儿出生。Objective:To analyze the genotypes and distribution of thalassemia in children in Quanzhou Region so as to provide reference for the prevention and control of thalassemia.Methods:A total of 1 302 children with suspected thalassemia were collected from January 2014 to April 2020 in Quanzhou Region.The deletional α-thalassemia was detected by Gap-PCR,and DNA reverse dot blot(RDB) hybridization was used to detect α-and β-thalassemia mutations.Results:In the 1 302 cases,667 cases were identified as thalassemia carriers,and the positive detection rate was about 51.23%.Among them,380 cases of α-thalassemia gene were detected,and--^(SEA)/αα was the most common genotype with the composition rate about 69.21%.Forty-two cases were identified as HbH disease,and-α ^(3.7)/--^(SEA) was the most common genotype.While,274 cases were identified as β-thalassemia,and β^(IVS-Ⅱ-654)/β^(N)(35.40%) and β^(CD41-42)/β^(N)(33.94%) were the most common genotypes.Seventeen cases of β-thalassemia major/intermedia were identified,and the most common genotypes were β^(IVS-Ⅱ-654)/βIVS-Ⅱ-64 and β^(IVS-Ⅱ-654)/β^(CD17).Meanwhile,13 cases of α-complex β-thalassemia were detected.Among them,1 case of β-thalassemia gene rare mutation Term CD+32 was firstly detected in Fujian Province,and 1 case of CD 14-15 mutation was firstly detected in Quanzhou Region.In addition,3 cases of abnormal hemoglobin disease were identified,in which 2 cases were Hb Q-Thailand and 1 case was Hb G-Honolulu.Conclusion:There are various genotypes of thalassemia in children in Quanzhou Region,and many children with thalassemia major or intermedia.Therefore,further prevention and control of thalassemia need to be strengthened for reducing the birth of thalassemia major or intermedia.

关 键 词：地中海贫血 基因检测 泉州地区 罕见突变 

分 类 号：R556[医药卫生—血液循环系统疾病]