摘要目的 探索HLA单倍体相合外周血造血干细胞移植治疗重型β地中海贫血的可行性.方法 16例Ⅲ度重型β地中海贫血患儿接受HLA单倍体相合外周血造血干细胞移植.预处理方案:2007年12月前采用A方案,即氟达拉滨(总量150 mg/m2)+白消安(静脉,总量520 mg/m2)+环磷酰胺(总量100 mg/kg)+抗胸腺细胞球蛋白(总量10 mg/kg)+全身照射(总量3 Gy)；2007年12月后采用B方案,即氟达拉滨(总量240 mg/m2),不进行全身照射,其余同A方案.移植物抗宿主病(GVHD)预防采用环孢素+甲氨蝶呤+霉酚酸酯三联方案.结果 16例患者中14例(87.5％)成功植活,中性粒细胞≥0.5×109/L的时间为移植后第10～17天,中位时间第13天；血小板≥20×109/L的时间为移植后第14 ～20天,中位时间第15天.植活的14例患者移植后第30天检测证实均为供者型完全嵌合状态.2例患者未能植入,其中1例于移植后第52天自体造血恢复.Ⅱ～Ⅳ度急性GVHD4例,其中皮肤Ⅱ度GVHD2例,皮肤Ⅲ度GVHD1例,肠道Ⅳ度急性GVHD 1例,广泛型慢性GVHD1例.中位随访时间49个月,14例患者存活,其中13例无病存活.结论 HLA单倍体相合外周血造血干细胞移植治疗重型β地中海贫血,可以使多数患者获得长期稳定的植活,对于无全相合供者的患儿而言是一种可行的治疗选择,急慢性GVHD仍是影响长期生存率及生活质量的主要因素.

abstractsObjective To evaluate the feasibility of HLA haploidentical peripheral blood hematopoietic stem cell transplantation(PBSCT) for patients with β thalassemia major.Methods Sixteen patients with β thalassemia major received HLA haploidentical PBSCT from parents.Two conditioning regimens were used.Regimen A was adopted before December 2007,which consisted of fludarbine ( total 150 mg/m2 ),busulfex (total 520 mg/m2 ),cyclophosphamide ( CTX,total 100 mg/kg),antithymocyte globulin ( ATG,total 10 mg/kg) and total body irradiation of 3 Gy.Regimen B was adopted after December 2007,which consisted of fludarbine ( total 240 mg/m2 ),busulfex ( total 520 mg/m2 ),CTX ( total 100 mg/kg),and ATG ( total 10 mg/kg).Combination of cyclosporin ( CsA),methotrexate (MTX) and mycophenolate mofetil (MMF) were used for prophylaxis of graft-versus-host disease(GVHD).Results Of 16 patients,14 (87.5％) had sustained engraftment.The median days of neutrophil exceeding 0.5 × 109/L and platelet exceeding 20 × 109/L were 13 days (range 10- 17 days) and 15 days (range 14-20 days) after PBSCT,respectively.Complete chimerism was achieved in all the 14 patients at one month after PBSCT.One patient lost his graft with autologous reconstitution 52 days after transplantation.Four patients had grade Ⅱ - ⅢⅣ acute GVHD and one patient had chronic extensive GVHD.In the 49-month median follow-up duration,13 of 16 patients were alive in disease-free situation.Conclusion HLA haploidentical PBSCT,which could provide stable and sustained engraftment for thalassemia major patients with no HLA identical donor,is a promising treatment strategy.