BCL11A对胎儿血红蛋白的调控

Regulation of B-cell lymphoma/leukemia 11A on fetal hemoglobin

摘要:

β-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。

Abstract:

β-thalassemia and sickle cell anemia (SCA) are hemoglobin diseases caused by abnormal β-globin, occurring in South-east 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.