地中海贫血造血干细胞移植供体及预处理方案选择的研究进展

Research progress of donors and preconditioning regimens selection in hematopoietic stem cell transplantation for thalassemia

地中海贫血为常染色体隐性遗传疾病，是由于基因突变导致血红蛋白的α或β珠蛋白链生成障碍引起的血液系统疾病。目前，造血干细胞移植（HSCT）是唯一可以治愈地中海贫血的方法。但是，由于受到HSCT供者与患者人类白细胞抗原（HLA）相合程度的限制，以及HSCT后的移植排斥与移植相关不良反应等并发症与预处理方案相关，因此选择合适的造血干细胞供体与预处理方案，对提高HSCT治疗地中海贫血的疗效至关重要。笔者拟就无关供者HSCT、亲缘供者HSCT、脐血移植（ucBT）及预处理方案的研究现状与研究进展进行综述。

Thalassemia is an autosomal recessive disorder associated with gene mutations blocking the synthesis of α or β-chain of globin. Hematopoietic stem cell transplantation （HSCT） is the only curative therapy for patients with Thalassemia. However, HSCT has been limited by human leukocyte antigen （HLA） matching degree. Moreover, the relatively probability of graft rejection and regimen-related adverse reactions in many patients receiving HSCT for Thalassemia are associated with the preconditioning regimens. It is important to choose suitable donors and pretreatments for treatment of thalassemia. In this review, the authors aimed to discuss the alternate HSCT approaches for Thalassemia, including unrelated donor HSCT, related donor HSCT, or umbilical cord blood transplantation（UCBT） and the preconditioning regimens.