• Jing Hu, Yebing Zhong, Pengxiang Xu, Liuyan Xin, Xiaodan Zhu, Xinghui Jiang, Weifang Gao, Bin Yang, and Yijian Chen.
• The First Clinical College, Gannan Medical University, Ganzhou, Jiangxi, China.
• Medicine (Baltimore). 2024 May 3; 103 (18): e38036e38036.

Abstractβ-Thalassemia is the world's number 1 single-gene genetic disorder and is characterized by suppressed or impaired production of β-pearl protein chains. This results in intramedullary destruction and premature lysis of red blood cells in peripheral blood. Among them, patients with transfusion-dependent β-thalassemia face the problem of long-term transfusion and iron chelation therapy, which leads to clinical complications and great economic stress. As gene editing technology improves, we are seeing the dawn of a cure for the disease, with its reduction of ineffective erythropoiesis and effective prolongation of survival in critically ill patients. Here, we provide an overview of β-thalassemia distribution and pathophysiology. In addition, we focus on gene therapy and gene editing advances. Nucleic acid endonuclease tools currently available for gene editing fall into 3 categories: zinc finger nucleases, transcription activator-like effector nucleases, and regularly interspaced short palindromic repeats (CRISPR-Cas9) nucleases. This paper reviews the exploratory applications and exploration of emerging therapeutic tools based on 3 classes of nucleic acid endonucleases in the treatment of β-thalassemia diseases.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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