β珠蛋白变体所致的高铁血红蛋白血症家族病例报告  

Case report of a family with methemoglobinemia caused byβ-globin variant

作　　者：吴帅 朱志威 田鑫[1] 张兵[1] 贺湘玲[1] WU Shuai;ZHU Zhiwei;TIAN Xin;ZHANG Bing;HE Xiangling(Department of Hematology and Oncology,Children's Medical Center,Hunan Provincial People's Hospital(The First Affiliated Hospital of Hunan Normal University),Changsha 410002,China)

机构地区：[1]湖南省人民医院(湖南师范大学附属第一医院)儿童医学中心血液肿瘤科,长沙410002

出　　处：《中国循证儿科杂志》2025年第2期154-156,共3页Chinese Journal of Evidence Based Pediatrics

摘　　要：回顾性分析1例湖南省人民医院收治的β珠蛋白变体所致的高铁血红蛋白血症患儿的临床表现、实验室检查和基因检测结果。患儿,男,14岁,出生6个月起出现发绀,显示血红蛋白电泳3.23 min处可见异常Hb为24.8%,先证者存在HBB基因c.320T>A位点(遗传自父亲、奶奶和叔叔)及c.52A>T位点(遗传自母亲)的双杂合突变。结合文献复习,先天性高铁血红蛋白血症多由系细胞还原酶系统缺陷或珠蛋白结构异常导致,在无心肺系统疾病情况下仍可出现发绀,且可伴随终生,血红蛋白电泳和基因检测有助于明确诊断。A retrospective analysis was conducted on the clinical manifestations,laboratory findings,and genetic test results of a 14-year-old male patient with methemoglobinemia caused by aβ-globin variant,who was admitted to Hunan Provincial People's Hospital due to cyanosis appearing at 6 months of age.Hemoglobin electrophoresis revealed an abnormal Hb peak at 3.23 min,accounting for 24.8%.The proband carried a double heterozygous mutation at the HBB gene c.320T>A(inherited from the father,grandmother and uncle)and c.52A>T(inherited from the mother).A literature review indicated that congenital methemoglobinemia is often caused by defects in the erythrocyte reductase system or structural abnormalities in globin.Cyanosis may persist lifelong even in the absence of cardiopulmonary diseases,and hemoglobin electrophoresis and genetic testing are instrumental in confirming the diagnosis.

关 键 词：儿童 β珠蛋白变体 高铁血红蛋白血症 HBB基因 临床表型 

分 类 号：R725.5[医药卫生—儿科]