目的：目前仅有30％左右的重型β-地中海贫血患者能找到HLA全相合的同胞供者，使造血干细胞移植治疗该病受到限制。该研究通过探讨单倍体造血干细胞移植治疗儿童重型β-地中海贫血的疗效，希望能够拓展供者源。方法：采用单倍体脐血或骨髓对10例重型β-地中海贫血患儿进行11例次移植。使用以羟基脲、氟达拉滨、白消安、环磷酰胺、抗胸腺细胞球蛋白为基础的预处理方案。结果：6例患者获长期稳定植入并脱离红细胞输注；2例短暂植入后排斥，其中1例恢复地中海贫血状态，另1例在移植早期死亡；1例行2次移植均未植入并出现移植后再障；1例未植入，出现再障，1年后恢复地中海贫血状态。8例植入者均发生急性移植物抗宿主病，仅1例发展为皮肤局限性慢性移植物抗宿主病。随访57.1（2.5～85.1）月，总体生存率90%，无病生存率为60%。结论：单倍体造血干细胞移植治疗儿童重型β-地中海贫血能长期重建造血，在无HLA相合同胞供体时，可以作为造血干细胞移植治疗的一种选择。［中国当代儿科杂志，2009，11（7）：546-548］

OBJECTIVE: Hematopoietic stem cell transplantation is currently a unique curative therapy for beta-thalassemia major. However, only 30% of patients have HLA-identical siblings to serve as donors. This study investigated the feasibility of hematopoietic stem cell transplantation from HLA mismatched related donors for beta-thalassemia major in children. METHODS: Between November 2001 and November 2007, 10 patients with beta-thalassemia major at median ages of 4.4 years (range:1.6-9.4 years) received 11 transplantations from their haploidentical donors, either HLA mismatched sibling umbilical cord bloods (n=6) or parents marrows (n=4) or sibling marrow (n=1). The conditioning regiment included fludarabine (100 mg/m2), busulfan (16 mg/kg), cyclophosphamide (200 mg/kg) and antithymocyte globulin. RESULTS: Of the 10 patients, 6 (60%) had sustained engraftment and red blood cell transfusion independence; 2 patients showed transient engraftment but rejected the graft quickly; 1 patients had no evidence of engraftment and developed aplastic anemia; 1 patient who received two transplantations had no evidence of engraftment and developed persistent aplastic anemia. All eight engrafted patients showed grade I to III acute graft-versus-host disease (GVHD), and only one developed limited skin chronic GVHD. The probability of overall and disease-free survival was 90% and 60%, respectively, with a median follow-up duration of 57.1 months (range:2.5 to 85.1 months). CONCLUSIONS: Haploidentical stem cell transplantation is an alternative option for children with beta-thalassemia major, particularly when a matched sibling donor is not available.［Chin J Contemp Pediatr, 2009, 11 (7):546-548］