摘要
目的分析佛山地区人群3种少见地中海贫血[简称地贫,αβ复合型地贫、非缺失型α地贫及血红蛋白H病(HbH病)]的基因突变类型及血液学特征。方法采用回顾性分析方法,选取2011年1月至2019年11月到南方医科大学附属佛山市第二人民医院进行地贫基因检测的人群作为研究对象。采用Sysmex XT-5000全自动血细胞分析仪进行血常规分析。采用PCR+导流杂交法检测α、β地贫基因并进行分析。结果共检测4563人,其中经基因诊断确诊为地贫的患者人数为1829例。αβ复合型地贫检出81例,阳性率为1.8%;非缺失型α地贫检出18例,阳性率为0.4%;HbH病检出23例,阳性率为0.5%。αβ复合型地贫中较常见的基因型分别为--^SEA/αα\β41-42/βN(17.3%,14/81),-α^3.7/αα\β41-42/βN(14.8%,12/81),--^SEA/αα\β654/βN(11.1%,9/81);血液学主要表现为正常或轻度贫血(93.8%,76/81),只有β地贫双重杂合子合并α地贫时表现为重度贫血。佛山地区非缺失型α地贫以αα^CS/αα\βN/βN基因型常见(50.0%,9/18),血液学表现为无阳性表型或典型的小细胞低色素症。佛山地区HbH病患者基因型主要为-α^3.7/--^SEA\βN/βN(65.2%,15/23);单纯的HbH表现为中度贫血(87.0%,20/23);HbH病合并β地贫的患者表现为正常或轻度贫血(13.0%,3/23)。结论佛山地区αβ复合型地贫基因型多样复杂,血液学主要表现为轻度贫血或正常。非缺失型α地贫以αα^CS/αα\βN/βN基因型常见,临床主要表现为无症状基因携带者。本地HbH病患者基因型主要为-α^3.7/--^SEA\βN/βN,血液学主要表现为中度贫血。
Objective To analyze the gene mutation types and haematological characteristics of αβ compound thalassemia,non-delectable α-thalassemia and Hemoglobin H Disease(HbH disease)in Foshan.Methods Using the method of retrospective analysis,we selected the population who had been tested for thalassemia gene in Foshan Second People's Hospital Affiliated to Southern Medical University from January 2011 to November 2019.Sysmex XT-5000 automatic hematology analyzer was used for routine blood analysis,α-,β-thalassemia genes were detected by PCR+diversion hybridization method.Results A total of 4563 people were tested,of which 1829 were diagnosed as thalassaemia through genetic diagnosis.αβ compound thalassaemia was detected in 81 cases with a positive rate of 1.8%;non-delectableα-thalassemia was detected in 18 cases with a positive rate of 0.4%;HbH disease was detected in 23 cases with a positive rate of 0.5%.The most common genotypes of αβ compound thalassemia were--^SEA/αα\β41-42/βN(17.3%,14/81),-α^3.7/αα\β41-42/βN(14.8%,12/81),--^SEA/αα\β654/βN(11.1%,9/81).The main manifestations of hematology were normal to mild anemia(93.8%,76/81).Only β-thalassemia with double heterozygotes and α-thalassemia showed severe anemia.αα^CS/αα\βN/βN genotypes were common in the local non delectable α-thalassemia(50.0%,9/18),and the non delectable α-thalassemia was characterized by non-positive phenotype or typical small-cell hypochromatosis in hematology.The genotypes of local HbH patients were-α^3.7/--^SEA\βN/βN(65.2%,15/23),and simple HbH manifested as moderate anemia(87.0%,20/23).Patients with HbH disease and β-thalassemia had normal or mild anemia(13.0%,3/23).Conclusions The genotypes of αβ compound thalassemia in Foshan area are diverse and complex,and hematology mainly manifests as mild anemia or normal.Non-delectable α-thalassaemia is common in the genotype of αα^CS/αα\βN/βN,and clinical manifestations are asymptomatic gene carriers.The genotype of local HbH patients is mainly-α^3.7/--^SEA\βN/βN,and the hematology mainly shows moderate anemia.
作者
邹林
陈尚花
谢伟贤
黄泽棋
何彩云
简咏芬
Zou Lin;Chen Shanghua;Xie Weixian;Huang Zeqi;He Caiyun;Jian Yongfen(Clinical Laboratory,Foshan Second People's Hospital Affiliated to Southern Medical University,Foshan 528000,China)
出处
《中华地方病学杂志》
CAS
CSCD
北大核心
2020年第11期791-795,共5页
Chinese Journal of Endemiology
基金
佛山市医学重点专科培育项目(FSPY3-2015022)。
