异基因造血干细胞移植治疗地中海贫血的研究进展

Progress in allogeneic hematopoietic stem cell transplantation for the treatment of thalassemia

  • 摘要: 地中海贫血是一种由于基因突变导致珠蛋白肽链合成障碍的遗传性溶血性贫血。我国存在大量地中海贫血基因携带者,其中约30万例为重型或中间型地中海贫血,重型地中海贫血需依赖终生输血及袪铁治疗,治疗费用高昂。异基因造血干细胞移植是重型地中海贫血的首选治愈方式,近十余年来移植方案和疗效不断改进。本文对地中海贫血不同供体移植疗效及发展过程进行综述,并对预处理方式演进、移植并发症作简要概述,为临床治疗决策提供参考。

     

    Abstract: Thalassemia is an inherited hemolytic anemia caused by gene mutations that lead to impaired synthesis of globin peptide chains. In China, there are a large number of thalassemia gene carriers, among whom approximately 300, 000 individuals suffer from thalassemia major(TM) or intermediate thalassemia. TM necessitates lifelong blood transfusions and iron chelation therapy, which entail high treatment costs. Allogeneic hematopoietic stem cell transplantation is the preferred curative treatment for TM. Over the past decade, both the transplantation methods and therapeutic outcomes have been continuously improved. This article reviews the efficacy and development of transplantation with different donors for thalassemia. We also briefly discuss the conditioning regimens and complications, aiming to provide a reference for clinical treatment.

     

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