Advance of research on the role of BCL11A in the occurrence and treatment of β-Thalassemia
10.3760/cma.j.cn511374-20230220-00085
- VernacularTitle:BCL11A在β-地中海贫血发生和治疗中的作用研究进展
- Author:
Aixiang LYU
1
;
Meihuan CHEN
;
Liangpu XU
;
Hailong HUANG
Author Information
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
- Keywords:
β-Thalassemia;
Blood Transfusion;
B cell lymphoma/leukemia 11A;
γ-globin
- From:
Chinese Journal of Medical Genetics
2024;41(4):417-425
- CountryChina
- Language:Chinese
-
Abstract:
β-Thalassemia is a single-gene disease caused by mutations in β-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 monitoring γ/β hemoglobin 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 for β-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 of β-thalassemia.
