异常Hb Rush患者血液学表型分析

Phenotype analysis of abnormal Hb Rush patients

目的分析异常血红蛋白(Hb)Rush病例的血液学表型特征。方法回顾分析Hb电泳提示Z(8)区Hb变异体(Hb Rush)的15例散发病例的血液学表型特征,检测所有患者的地中海贫血基因并进行β珠蛋白基因序列分析。结果 15例Hb Rush患者毛细管电泳Z(8)区发现异常条带Hb Rush,测定值为40.9%~58.2%,HBB基因测序显示携带不稳定Hb突变Hb Rush [HBB CD101 GAG>CAG,谷氨酸(Glu)>谷氨酰胺(Gln)]。15例Hb Rush患者中,8例成年单纯Hb Rush携带者和2例合并α^+地中海贫血基因突变的患者血液学表型基本正常,3例儿童和2例合并β-地中海贫血的患者表现为轻度至中度贫血。结论单纯Hb Rush突变杂合子可无贫血的血液学表型特征,容易漏诊。Hb电泳是检测Hb Rush 较经济、有效的手段。

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.