佛山地区复合型地中海贫血的基因型及临床表现型研究  

To study characteristics between composite genotype of thalassaemia and clinical phenotype in foshan district

作　　者：范联[1] 林业辉[1] 周杏[1] 潘志伟[1] 何昀[1] 王秋菊[1] 张洁妍[1] 陈国华[1] 彭盛[1] 文永钊[1] 何小城[1] 

机构地区：[1]佛山市妇幼保健院儿科,广东佛山528000

出　　处：《临床血液学杂志》2012年第5期569-572,共4页Journal of Clinical Hematology

基　　金：佛山市科技局科技攻关课题(No:200808048)

摘　　要：目的:探讨佛山地区αβ复合型地中海贫血(αβ复合型地贫)的基因型及临床表现型特征。方法:对15例αβ复合型地贫患者进行全血细胞分析和血红蛋白电泳,同时采用Gap-PCR法检测3种常见的α地贫缺失基因,反向点杂交法检测17种常见的β地贫突变基因位点。结果:15例αβ复合型地贫中共检出3种α地贫缺失基因和4种β地贫突变基因,分别为:--SEA(66.7%)、-а3.7(26.7%)、-а4.2(6.6%)和CD41-42(42.1%)、IVS-2-654(31.6%)、CD17(15.8%)、β-28(10.5%),组合成9种复合基因型,其中轻型11例,重型4例。轻型患者多贫血症状轻微或无,重型患者呈中间型地贫表现。轻、重型αβ复合型地贫红细胞均呈小细胞、低色素改变,两者RBC、MCV、MCH、MCHC差异均无统计学意义(均P>0.05),重型患者Hb低于轻型(P<0.05),RDW大于轻型(P<0.05)。重型患者HbF高于轻型患者(P<0.05),HbA2两型患者差异无统计学意义(P>0.05))。结论:αβ复合型地贫有其自身特点,临床表现取决于其基因型。建议建立地贫基因网络档案库,加强对地贫患者的保健、治疗和婚姻生育等指导工作。Objective：To discuss characteristics between composite genotype thalassaemia and clinical phenotype.Individuals with composite genotype thalassaemia were refered to as having defective α gene and mutated β gene.Method：Complete blood analysis、hemoglobinelectrophoresis and Gap-PCR were used to test fifteen confirmed diagnosis thalassemia patients,which were composite genotype thalassaemia.We used Gap-PCR mainly to detect three common defective αgene and seventeen common mutated β gene.Result：Three common defective α gene and four common mutated β gene were detected among fifteen composite genotype thalassaemia patients,respectively,-SEA（66.7%）,-а3.7（26.7%）,-а4.2（6.6%）,CD41-42（42.1%）,IVS-2-654（31.6%）,CD17（15.8%）,β-28（10.5%）.These genes combine nine type different composited genotypes,including 11 mild clinical manifestation and 4 severe clinical manifestation.Anemia symptoms with most mild patiens were range from no to minor,meanwhile severe patients were moderate anaemia.All of composite genotype thalassaemia patients were microcytichypochromicanemia.There were no statistically signigicants of red blood cell、mean corpuscular volume、mean corpuscular hemoglobin、mean corpuscular hemoglobin concentration between mild and severe patients（P0.05）.Haemoglobin were lower（P0.05）,red cell distribution width and HbF were higher（P0.05） in severe patients,meanwhile,HbA2 were no differences in mild and severe patients（P0.05）.Conclusion：There were differences clinical characteristics between mild and severe patients,which were depend on genotype.To set up thalassemia genotype network archive could help instruct thalassemia patients in health care,treatment,marriage and breeding.

关 键 词：地中海贫血 基因型 临床表型 血红蛋白电泳 

分 类 号：R556.6[医药卫生—血液循环系统疾病]