关键词: 异常血红蛋白, 血红蛋白Rush, 地中海贫血, 血红蛋白电泳

Abstract: Objective To analyze the phenotype of abnormal hemoglobin（Hb） Rush. Methods The hematological phenotype characteristics of 15 sporadic cases of Z（8）Hb variants（Hb Rush）suggested by Hb electrophoresis were analyzed retrospectively,and thalassemia gene was determined. The sequence of beta globin gene was analyzed. Results In the 15 cases,abnormal Hb Rush bands（40.9%-58.2%） were determined by capillary electrophoresis,and HBB gene sequencing showed that all the cases carried the mutation of unstable Hb Rush mutations [HBB CD101 GAG>CAG,glutamic acid（Glu）>glutamine（Gln）]. Among the 15 cases,8 adults were Hb Rush pure carriers,and another 2 cases of Hb Rush with the mutation of alpha⁺thalassemia gene were basically normal in the blood analysis phenotype,while 3 children and 2 cases with congenital β-thalassemia presented mild to moderate anemia. Conclusions Hb Rush mutagenesis alone has an anemic hematological phenotype characteristic,which is easy to cause missed diagnosis and Hb electrophoresis is an economic and effective means to find abnormal Hb.

Key words: Abnormal hemoglobin, Hemoglobin Rush, Thalassemia, Hemoglobin electrophoresis