广西地区79例β-地中海贫血复合α-地中海贫血患者血液学特征分析  

作　　者：熊符[1] 娄季武[1] 魏小凤[1] 孙曼娜[2] 黄际卫[1] 商璇[1] 张新华 徐湘民[1] 

机构地区：[1]南方医科大学基础医学院医学遗传学教研室,广州510515 [2]东莞市妇幼保健院产前诊断中心 [3]解放军第三0三医院血液科

出　　处：《中华血液学杂志》2012年第10期856-860,共5页Chinese Journal of Hematology

基　　金：国家自然科学基金（30900806）;广东省自然科学基金博士启动项目（9451051501002517）;广东省科技计划项目（2009A030301002）

摘　　要：目的分析探讨β-地中海贫血（地贫）复合α地贫的血液学表型特征，以及调查广西地区β-地贫复合α地贫的发生率。方法对370例广西中小学生β-地贫基因携带者进行α-地贫基因突变检测分析，并依据不同的α、β基因型组合及不同性别进行分组，运用单因素方差分析法（ORe—wayanova）分析β-地贫复合o／一地贫患者的血液学表型特征。结果370例β-地贫基因携带者中有79例同时合并有仅一地贫基因突变，占总数的21．35％，占广西地区调查人群总数的1．36％；共鉴定到31种不同的a／13基因型组合，其中，除了3例β-地贫复合αααant3.7／αα和2例β654（C→T）／βA复合-α／αα具有中间型地贫表型外，其余的74例α-地贫复合α-地贫患者均表现为轻型β-地贫特征。和单纯p．地贫杂合子相比，复合型α-和β-地贫中的β＋α组HGB、红细胞平均体积（MCV）和红细胞平均血红蛋白含量（MCH）明显增高。而复合型中，p＋d。组的MCV、MCH及HGB水平要高于p＋d’组。结论与单纯β-地贫基因携带者相比，β-地贫复合α-地贫的个体表型相对较轻，虽存在一定的统计学意义，但仅通过个体间的血液学特征比较并不能准确鉴别复合型个体与单纯β-地贫杂合子个体，确诊必须依赖于分子诊断。Objective To investigate the hematological characteristics of co-inheritance of α-thalassemia (α-thal) and β-thalassemia (β-thal) and to survey the incidence of co-inheritance of α-thal and β-thal in Guangxi.Methods DNA samples from 370 primary and middle school students who were β-thal carriers in Guangxi were further processed for the α-goblin gene mutation screening,and were grouped based on the genotype of β-and α-goblin gene.The hematological indexes to the different groups were compared by Oneway ANOVA.Results Of the total 370 β-thal carriers,79 were found to carry α-thal,which gave a frequency of 21.35％ for β-thal carriers and 1.36％ for coincidence of these two common disorders in the local population.As expected,the 79 patients presented very variable α-globin alterations in combination with β-globin mutations,showing 31 genotype combined with the coincidence of both Hb disorders.Except the genotypes of 3 β-thal heterozygotes combined with αααanti3.7 triplication and 2 β-thal carriers with IVS-Ⅱ-654 (C→T)/N combined-α3.7/αα presented the phenotype of thalassemia intermedia,and other 74 carriers with co-inheritance of α-thal and β-thal all presented the phenotype of β-thal trait.There were significant differences between β-thal heterozygotes and the carriers with a co-inheritance of both β + α0 thal in MCH,MCV and Hb.In addition,there existed significant difference between the carriers with a co-inheritance of both β + α + thal and a co-inheritance of both β + α0 thal in MCV,MCH and Hb.Conclusion Compared to that of β-thal heterozygotes,the carriers with a co-inheritance of α-thal and β-thal had slighter phenotype with hematological characteristics.It's difficult to distinguish the double heterozygotes with the co-inheritance of α-thal and β-thal from β-thal heterozygotes by hematological indexes,the molecular diagnosis should be performed.

关 键 词：地中海贫血 基因型 血液学特征 

分 类 号：R556.61[医药卫生—血液循环系统疾病]