血红蛋白Westmead的基因型与表型分析  

Analysis of the genotype-phenotype relationship of HbWestmead

作　　者：曾劲伟 梁伟达[1] 孟霞 ZENG Jin-wei;LIANG Wei-da;MENG Xia.(Department of Clinical Laboratory, Chancheng Centre Hospital Affiliated of Guangdong Medical College, Guangdong Foshan 528031)

机构地区：[1]广东医学院附属佛山市禅城区中心医院检验科,广东佛山528031

出　　处：《中国优生与遗传杂志》2018年第5期17-18,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析血红蛋白Westmead(HbWS)携带者基因型与表型之间的关系,探讨HbWS对血液学指标的影响规律。方法回顾分析已通过PCR-反向点杂交技术确诊的82例HbWS携带者的血常规和血红蛋白电泳数据。结果 HbWS杂合子表型特征符合静止型α-地中海贫血(α-地贫);HbWS杂合子合并α左缺失或右缺失型突变时,表现出小细胞低色素性贫血的特征,但血液学和血红蛋白电泳改变相对东南亚缺失型地贫表现得更轻微;HbWS杂合子合并东南亚缺失型时,只呈现出轻型α-地贫的表型特征;HbWS杂合子复合β地贫的病例表现为典型的β地贫血液学特征。结论 HbWS杂合子无论是单独存在或合并其它地贫类型时,对表型的影响均表现得轻微。Objective：To analyze the genotype-phenotype correlations in the Hb Westmead（Hb WS）carriers,and to investigate the effect of Hb WS on hematologic parameters. Methods：The blood routine and hemoglobin electrophoresis data of 82 Hb WS carriers diagnosed by reverse dot blot hybridization were retrospectively analyzed. Results：The phenotype characteristics ofthe Hb WS heterozygous consistent with silentalpha thalassemia;The Hb WS heterozygotes co-existing with leftward or rightward deletion mutation,characterized by microcytic hypochromic anemia,but the changes of hematology and hemoglobin electrophoresis is milderthan SEA deletion;The Hb WS heterozygotes co-existing with SEA deletion only showed the phenotypic characteristics of light alpha thalassemia;The Hb WS heterozygotesco-existing with betathalassemiashowed typical hematologic characteristics of betathalassemia. Conclusion：Whether Hb WS heterozygotesoccurred in isolation or co-existed with other types of thalassemia,the effects on phenotypewere mild.

关 键 词：Α-地中海贫血 血红蛋白Westmead 基因型 表型 

分 类 号：R556.71[医药卫生—血液循环系统疾病]