摘要
β-地中海贫血是一种由β-珠蛋白基因突变或缺失引起的遗传性溶血性贫血。传统的治疗方案输血、去铁与脾脏切除术治疗等虽能维持生命,但存在生活质量低下、铁过载并发症及经济负担沉重等局限性。近年来,随着基因编辑、慢病毒载体介导的基因添加疗法、半相合造血干细胞移植技术优化以及红细胞成熟剂等突破性技术和创新药物的出现,该领域已迈入精准与个体化治疗的新纪元。本文系统综述了全球β-地中海贫血治疗领域的最新突破性进展,重点剖析基因治疗等前沿技术的临床试验关键数据与作用机制,并结合临床实践探讨个体化治疗策略的优化与未来面临的挑战。
β-thalassemia is an inherited hemolytic anemia caused by mutations or deletions in theβ-globin gene.Although conventional treatments such as blood transfusion,iron chelation therapy,and splenectomy can be lifesustaining,they are associated with limitations including poor quality of life,iron overload complications,and a substantial economic burden.In recent years,with the advent of breakthrough technologies and innovative drugs—such as gene editing,lentiviral vector-mediated gene addition,optimized haploidentical hematopoietic stem cell transplantation,and erythroid maturation agents—the field has entered a new era of precision and personalized medicine.This article systematically reviews the latest groundbreaking advances in the global treatment ofβ-thalassemia,with a focus on analyzing key clinical trial data and mechanisms of action of cutting-edge technologies like gene therapy.Furthermore,it discusses the optimization of personalized treatment strategies and future challenges within the context of clinical practice.
作者
郭雁翔
刘容容
黄肖曼
李静怡
罗鲜丹
陆艳丽
张宏亮
GUO Yanxiang;LIU Rongrong;HUANG Xiaoman;LI Jingyi;LUO Xiandan;LU Yanli;ZHANG Hongliang(Department of Pharmacy,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Department of Hematology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)
出处
《广西医科大学学报》
2025年第6期806-813,共8页
Journal of Guangxi Medical University
基金
广西壮族自治区卫生健康委综合评价项目(No.YPPJ012)
北京生命绿洲公益中心血液学专项-贫血性疾病领域探索基金项目(No.ILVZHOU-PXXJB-011)。
