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β-地中海贫血治疗新方法概述

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血红蛋白病是全球范围内最常见的单基因遗传病之一，约有1％～5％的全球人口携带地中海贫血的突变基因。地中海贫血可根据输血需求分为输血依赖型地中海贫血和非输血依赖型地中海贫血。传统的治疗方式包括输血、脾切除手术、羟基脲疗法和铁螯合疗法等，它们目前被广泛应用于临床治疗，并构成了β-地中海贫血治疗指南所推荐的主要方法。然而，这些方法的应用存在着多种障碍和限制，因此迫切需要探索新的治疗方法。随着对β-地中海贫血的病理生理学过程的研究，人们对该疾病的发病机制有了更深入的了解。现已证明，地中海贫血的发病与无效红细胞生成(ineffective erythropoiesis，IE)、o/β-珠蛋白链比例失衡和铁过载等密切相关。针对不同的发病机制，新的治疗方法不断涌现。其中，治疗IE的新药物主要包括活化素受体Ⅱ陷阱配体、Janus激酶2抑制剂、丙酮酸激酶活化剂和甘氨酸转运蛋白1抑制剂等;纠正血红蛋白链不平衡的新技术主要有骨髓移植术和基因编辑等;降低铁过载方面的措施则与抑制转铁蛋白和铁调素等的活性相关。这些新方法和新药物为β-地中海贫血的治疗和管理提供了新的思路和选择。
Overview of new approaches to β-thalassemia treatment
Hemoglobinopathies are one of the most common single-gene genetic disorders globally,with approximately 1％to 5％of the global population carrying the mutated gene for thalassemia.Thalassemia are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia based on the need for blood transfusion.Traditional treatment modalities include blood transfusion,splenectomy,hydroxyurea therapy,and iron chelation therapy,which are now widely used for clinical treatment and constitute the main methods recommended in the β-thalassemia treatment guidelines.However,there are multiple barriers and limitations to the application of these approaches,and there is an urgent need to explore new therapeutic approaches.With the in-depth study of the pathophysiological process of β-thalassemia,a deeper understanding of the pathogenesis of the disease has been gained.It has been demonstrated that the pathogenesis of thalassemia is closely related to ineffective erythropoiesis(IE),imbalance in the ratio of α/β-globin protein chains and iron overload.New therapeutic approaches are emerging for different pathogenic mechanisms.Among them,new drugs for the treatment of IE mainly include activin receptor Ⅱ trap ligands,Janus kinase 2 inhibitors,pyruvate kinase activators,and glycine transporter protein 1 inhibitors.Correcting the imbalance in the hemoglobin chain is mainly due to emerging technologies such as bone marrow transplantation and gene editing.Measures in reducing iron overload are associated with inhibiting the activity of transferrin and hepcidin.These new approaches provide new ideas and options for the treatment and management ofβ-thalassemia.

β-thalassemiaglobin chain imbalanceiron overloadineffective erythropoiesis

郭先凤、韩璐、张绪超、张海航、刘静

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中南大学生命科学学院,长沙 410013

中南大学血液学基础与应用湖南省重点实验室,长沙 410078

β-地中海贫血 珠蛋白链失衡 铁过载 无效红细胞生成

National Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaPostgraduate Scientific Research Innovation Project of Hunan Province,China

8192010800482270127CX20220132

2024

10.13294/j.aps.2024.0037

生理学报
中国科学院上海生命科学研究院,中国生理学会

生理学报

CSTPCD北大核心
影响因子：0.864
ISSN：0371-0874
年,卷(期)：2024.76(3)