广西地区1110例血红蛋白H病患者的基因型、血液学表型和铁过载的临床研究  

A clinical study on genotype,hematological phenotype and iron overload of 1110 patients with hemoglobin H disease in Guangxi

作　　者：庞艳敏 王小超[1] 潘红飞[3] 尹晓林 PANG Yanmin;WANG Xiaochao;PAN Hongfei;YIN Xiaolin(Hematology Department of Affiliated Hospital Youjiang Medical University for Nationalities,Baise 533000,China;Graduate School,Youjiang Medical University for Nationalities,Baise 533000,China;Neonatal Department of Affiliated Hospital, Youjiang Medical University for Nationalities,Baise 533000,China;Hematology Department,The 923th Hospital of Joint Logistics Support Force of the Chinese People’s Liberation Army,Nanning 530021,China)

机构地区：[1]右江民族医学院附属医院血液内科,百色533000 [2]右江民族医学院研究生学院,百色533000 [3]右江民族医学院附属医院新生儿科,百色533000 [4]中国人民解放军联勤保障部队第九二三医院血液科,南宁530021

出　　处：《右江医学》2019年第5期336-342,共7页Chinese Youjiang Medical Journal

基　　金：广西壮族自治区卫生厅重点科研课题(2011071)

摘　　要：目的 了解广西中间型α地中海贫血(血红蛋白H病,HbH病)患者不同基因型的贫血、铁超载状况及其与表型的关系。方法 利用地贫管理系统,收集2011~2018年共8年间就诊于右江民族医学院附属医院、中国人民解放军联勤保障部队第九二三医院的1110例血红蛋白H病患者的一般资料、基因型结果、血液学参数和铁过载指标;将HbH病患者按缺失型、非缺失型分成两组,观察两组血常规及血清铁蛋白(SF)的检测结果,比较缺失型与非缺失型HbH病患者血红蛋白H量、Hb、MCV、MCH及铁负荷情况;贫血及铁蛋白随年龄变化的情况。利用SPSS 19.0软件对相关数据进行分析处理。结果 1110例HbH病患者共检出8种基因型,缺失型有:-α 3.7 /-- SEA 142例(占18.0%)、-α 4.2 /-- SEA 56例(占7.1%)、-α 3.7 /-- THAI 3例(占0.4%)、-α 4.2 /--α WS 1例(占0.1%),非缺失型主要基因型有:-α CS /-- SEA 562例(占71.3%)、-α QS /-- SEA 18例(占2.3%)、-α CS /-- THAI 4例(占0.5%)、-α WS /-- SEA 2例(占0.3%),其中以非缺失型为主。1110例HbH病患者中,平均Hb<30 g/L占0.2%,30~60 g/L占4.7%,60~90 g/L占66.3%,>90 g/L占28.8%。非缺失型HbH病患者贫血程度较缺失型患者严重,其MCV、MCH及HbH含量高于缺失型患者。非缺失组SF水平、铁超载和重度铁超载比例均高于缺失型患者。缺失组、非缺失组平均Hb水平与年龄均无明显相关性;缺失组、非缺失组的SF与年龄呈正相关( r 值分别为0.38和0.21, P <0.01)。结论 广西地区的HbH患者基因型以非缺失型为主,大部分为中度贫血,部分为重度贫血,铁过载随着年龄的增加而增加,非缺失型铁超载程度较缺失型严重。Objective To investigate the anemia,iron overload and its relationship with phenotype in different genotypes of patients with intermediate α-thalassemia(hemoglobin H disease,HbH disease) in Guangxi. Methods Through thalassemia management system,general data,genotype results,hematological parameters and iron overload of 1110 patients with HbH disease who received treatment in the Affiliated Hospital of Youjiang Medical University for Nationalities and The 923th Hospital of Joint Logistics Support Force of the Chinese People’s Liberation Army from 2011 to 2018 were collected.HbH patients were divided into two groups according to deletion type and non-deletion type.Then,the results of blood routine and serum ferritin(SF) in two groups were observed,and hemoglobin H,Hb,MCV,MCH and iron load in patients with deletion type and non-deletion type as well as the changes of anemia and ferritin with age were compared.In addition,all statistics were processed and analyzed by the SPSS 19.0 software. Results Of the 1110 patients with HbH disease,8 genotypes were detected,and the deletion type was:-α 3.7 /-- SEA in 142 cases(18.0%),-α 4.2 /-- SEA in 56 cases(7.1%),-α 3.7 /-- THAI in 3 cases(0.4%) and -α 4.2 /--α WS in 1 case(0.1%).The non-deletion type included:-α CS /-- SEA in 562 cases(71.3%),-α QS /-- SEA in 18 cases(2.3%),-α CS /-- THAI in 4 cases(0.5%) and -α WS /-- SEA in 2 cases(0.3%).In general,non-deletion type was the main genotype.Among 1110 patients with HbH disease,mean Hb<0 accounted for 0.2%,30~60 g/L accounted for 4.7%,60~90 g/L accounted for 66.3%,and mean Hb>90 g/L accounted for 28.8%.Anemia in HbH patients with non-deletion was more serious than that in patients with deletion,and the contents of MCV,MCH and HbH in HbH patients with non-deletion were higher than those in patients with deletion.SF level and the proportion of iron overload and severe iron overload in the non-deletion group were all higher than those in the deletion group.There was no significant correlation between the average Hb lev

关 键 词：血红蛋白H病 基因型 贫血 铁超载 

分 类 号：R692[医药卫生—泌尿科学]