BCL11A在β-地中海贫血发生和治疗中的作用研究进展  

Advance of research on the role of BCL11A in the occurrence and treatment of β-Thalassemia

作　　者：吕爱香 陈梅环 徐两蒲[1] 黄海龙[1] Lyu Aixiang;Chen Meihuan;Xu Liangpu;Huang Hailong(Gynecology and Pediatrics,Fujian Medical University,Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省妇幼保健院,福建医科大学妇儿临床医学院,福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2024年第4期417-425,共9页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81970170);福建省科技创新联合基金(2021Y9173、2021Y9174、2023Y9364);福建省卫生健康中青年科研重大项目(2023ZQNZD009)。

摘　　要：β-地中海贫血是一种由β-珠蛋白突变引起的单基因病,具有明显的地域性。目前中~重型患者主要依靠长期输血或造血干细胞移植治疗。B细胞淋巴瘤因子11A(BCL11A)是一种转录抑制因子,在控制γ/β血红蛋白转换、维持造血干细胞正常功能、调节红细胞分化和淋巴细胞发育等过程中发挥重要的作用。近年来,随着基因编辑技术的快速发展,将BCL11A作为β-地贫的治疗靶点展现出了良好的应用前景。综述BCL11A相关的调控机制及治疗潜力,以期为β-地贫的治疗提供新的思路。β-Thalassemia is a single-gene disease caused by mutations inβ-globin and has a distinct geographical characteristics.Current treatment for patients with moderate to severe thalassemia has mainly relied on long-term blood transfusion and/or hematopoietic stem cell transplantation.B cell lymphoma/leukemia 11A(BCL11A)as a transcriptional repressor plays a vital role in monitoringγ/βhemoglobin switching,maintaining the normal function of hematopoietic stem cells,and regulating erythrocyte differentiation and lymphocyte development.With the rapid progress in gene editing technology,the BCL11A as a therapeutic target forβ-thalassemia has shown promising results.This article has systematically summarized the regulatory mechanism and therapeutic potential of the BCL11A,with an aim to provide new ideas for the treatment ofβ-thalassemia.

关 键 词：1β-地中海贫血 输血治疗 B细胞淋巴瘤因子11A γ-珠蛋白 

分 类 号：R556.61[医药卫生—血液循环系统疾病]