中国南方地区血红蛋白H病的基因型与表型的相关性研究  

Genotype-phenotype correlations of hemoglobin H disease in Southern China

作　　者：陈素琴[1] 蒋玮莹[1] 陈路明[1] 田秋红[1] 曾瑞萍[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广州510080

出　　处：《新医学》2015年第5期294-298,共5页Journal of New Medicine

基　　金：国家自然科学基金(81200402);广东省医学科研基金(A2012169)

摘　　要：目的探讨中国南方地区血红蛋白H病(HbH病)的基因型与表型的关系。方法收集433例HbH病患者的临床及血液学表型资料,包括首发症状、诊断年龄、性别、红细胞渗透脆性、血红蛋白组分、红细胞参数;分析其基因型与表型的关系。结果非缺失型HbH病患者诊断年龄小于缺失型患者(P<0.001),男性患者年轻于女性患者(P<0.05)。所有Hb H病患者均表现为红细胞渗透脆性降低,缺失型比非缺失型降低更明显(P<0.001)。HbH含量在各基因型中差异显著,从高到低分别为:--SEA/αQSα>--SEA/αCSα>缺失型HbH病。非缺失型患者红细胞计数低于缺失型患者(P<0.05),而平均红细胞体积(MCV)及平均红细胞血红蛋白含量(MCH)水平均高于缺失型患者(P均<0.05)。红细胞渗透脆性与MCV呈正相关(r=0.304,P<0.001)。237例--SEA/-α3.7患者全部为-α3.7Ⅰ型。结论 Hb H病的临床表现及血液学表型与基因型有关。除了年龄、性别因素外,α-珠蛋白基因缺陷所引发的分子病理机制是决定HbH病表型及其多样性的因素之一。Objective To investigate the genotype-phenotype correlation in patients with hemoglobin H （HbH）disease from Southern China.Methods The clinical and hematological data of 433 patients with HbH disease were collected,including first presentations,age at diagnosis,gender,erythrocyte osmotic fragili-ty,hemoglobin fractions and red blood cell （RBC）indices.The genotype-phenotype correlation was analyzed. Results Age at diagnosis of patients with nondeletional genotype was significantly younger compared with that of deletional genotype individuals （P 〈0.001）.The age at diagnosis of males was significantly younger than that of female counterparts （P 〈0.05）.All patients showed reduced erythrocyte osmotic fragility,especially in those with deletional genotype （P 〈0.001）.The proportion of HbH significantly varied among different geno-types in the following order：--SEA /αQS α〉 --SEA /αCS α〉 deletional HbH disease.The RBC count of patients with nondeletional genotype was significantly lower,whereas the mean corpuscular volume （MCV）and mean corpuscular hemoglobin （MCH）levels were significantly higher than those of deletional genotype counterparts （all P 〈0.05）.Erythrocyte osmotic fragility was positively correlated with MCV （r =0.304,P 〈0.001）.237 cases of --SEA /-α3.7 all were -α3.7Ⅰsubtype.Conclusions The clinical features and hematological phenotypes correlate with genotypes of HbH disease.Besides age and gender,the molecular pathological mechanism in-duced by α-globin gene defects is one of the determining factors for phenotype and divergence in HbH disease.

关 键 词：Α-地中海贫血 血红蛋白H病 基因型 表型 中国 南方 

分 类 号：R556.61[医药卫生—血液循环系统疾病]