非亲缘外周血造血干细胞移植治疗重型β-地中海贫血1例

Unrelated donor allogeneic peripheral blood stem cell transplantation for beta-thalassemia major in one case

患儿,女,4岁,体质量19kg。生后4个月开始进行性面色苍白伴巩膜黄染,血红蛋白65g/L,白细胞和血小板均正常,血红蛋白电泳血红蛋白A48.1%、血红蛋白A24.2%、抗碱血红蛋白47.7%,基因型为β地贫纯合子,诊断为重型β地中海贫血,以间断大量输血维持生命。于2005-12-09在厦门大学附属中山医院血液科接受非亲缘性外周血干细胞移植。预处理方案采用常规氟达拉滨、白消胺、环磷酰胺三药联合方案,以环孢菌素A、霉酚酸酯、抗胸腺淋巴细胞免疫球蛋白联合预防移植物抗宿主病,供受者人类白细胞抗原高分辨全相合,ABO血型次要不合(O-A),输入CD34+干细胞11.4×106/kg。植入成功,移植后12d中性粒细胞>0.5×109L-1,移植后37d血小板>50×109L-1,移植后35d患者血型检测转变为供者血型,患儿血红蛋白达到100g/L的时间是28d,移植后患儿未再输血,血红蛋白维持130g/L以上,整个移植过程顺利,未出现严重感染和移植物抗宿主反应,随访18个月,患儿生活正常,发育良好。

A four-year-old girl of 19 kg, who had progressive pale complicated by icteric sclera since the fourth month with 65 g/L hemoglobin, normal white cells and platelet, hemoglobin electrophoresis hemoglobin A of 48.1%, A2 of 24.2%, alkali-resistant hemoglobin of 47.7%, genetype of β-thalassemia hemozygote, was diagnosed as β-thalassemia and maintained living by receiving blood transfusion per month. On December 9th, 2005, she received unrelated donor allogeneic peripheral blood stem cell transplantation in Zhongshan Hospital of Xiamen University. The pretreatment schedule included fludarabine, busulfan and cyclophosphamide, then Ciclosporin A, mycophenolate mofetil and antithymocyte globulin were used for graft-versus-host disease （GVHD） prophylaxis. The donor and recipient were all matched for human leukocyte antigen, but blood type was different （the patient was O, the donor was A）. 11.4×10^6/kg CD34^＋ stem cells from donor was transplanted into patient. The transplantation was successful. The duration when peripheral blood neutrophil count exceeded 0.5×10^9/L on 12 days after transplantation, platelet exceeded 50×10^9/L on 37 days after transplantation; the blood type was changed into donor＇s one on 35 days after transplantation, and the time when hemoglobin reached 100 g/L was 28 days. The hemoglobin of the patient was kept over 130 g/L without blood transfusion after transplantation. During the 18-month follow up, there was no evidence of severe infection and GVHD, and this girl lived normally and grew well.