CAJ | 학술논문

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 HbH 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HbH 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。
목적：탐토중국남방지구혈홍단백H병（HbH병）적기인형여표형적관계。방법수집433례 HbH 병환자적림상급혈액학표형자료，포괄수발증상、진단년령、성별、홍세포삼투취성、혈홍단백조분、홍세포삼수；분석기기인형여표형적관계。결과비결실형 HbH 병환자진단년령소우결실형환자（P ＜0．001），남성환자년경우녀성환자（P ＜0．05）。소유 HbH 병환자균표현위홍세포삼투취성강저，결실형비비결실형강저경명현（P ＜0．001）。HbH 함량재각기인형중차이현저，종고도저분별위：--SEA ／αQSα＞--SEA ／αCSα＞결실형 HbH 병。비결실형환자홍세포계수저우결실형환자（P ＜0．05），이평균홍세포체적（MCV）급평균홍세포혈홍단백함량（MCH）수평균고우결실형환자（P 균＜0．05）。홍세포삼투취성여 MCV 정정상관（r ＝0．304，P ＜0．001）。237례--SEA ／-α3．7환자전부위-α3．7Ⅰ형。결론HbH 병적림상표현급혈액학표형여기인형유관。제료년령、성별인소외，α-주단백기인결함소인발적분자병리궤제시결정 HbH 병표형급기다양성적인소지일。
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.