摘要
地中海贫血(β-thalassemia,β-地贫)和镰状细胞贫血(sickle cell anemia,SCA)均属于β-珠蛋白异常导致的血红蛋白病,不同程度地流行于东南亚、南亚、北非及地中海区域。胎儿血红蛋白(fetal hemoglobin,HbF)水平升高可明显改善两者的临床症状。B细胞淋巴瘤因子11A(B cell lymphoma/leukemia 11A,BCL11A)是一种锌指结构转录因子,在胎儿到成人血红蛋白转换过程中发挥重要的负向调节作用。BCL11A下调会激活γ-珠蛋白提高HbF表达,使β-地贫和SCA临床症状得到缓解。本文主要论述BCL11A对γ-珠蛋白的调控机制、BCL11A与β-地贫和SCA的治疗,从而为β-珠蛋白病的研究提供理论依据。
thalassemia and sickle cell anemia(SCA)are hemoglobin diseases caused by abnormal β-globin,occurring in Southeast Asia,South Asia,North Africa and the Mediterranean region with different degrees. Elevated fetal hemoglobin(HbF)levels can significantly improve their clinical symptoms. B-cell lymphoma/leukemia 11A(BCL11A),a zinc finger structure transcription factor,plays an important negative regulatory role in fetal-to-adult hemoglobin expression. Down-regulated BCL11A activates γ-globin,so as to increase fetal hemoglobin expression,alleviating clinical symptoms of β-thalassemia and SCA. This article focuses on the mechanism of BCL11A on γ-globin,and the treatment of β-thalassemia and SCA based on BCL11A,thereby providing a theoretical basis for the study of β-globin disease.
作者
孙绍华
朱宝生
张杰
吕涛
Sun Shaohua;Zhu Baosheng;Zhang Jie;Lü Too(College of Clinical Medicine,Kunming University of Science and Technology;Department of Medical Genetics,The First People's Hospital of Yunnan Province)
出处
《重庆医科大学学报》
CAS
CSCD
北大核心
2021年第10期1281-1286,共6页
Journal of Chongqing Medical University
基金
国家自然科学基金地区科学基金资助项目(编号:81660022)。
