Zhu Wei-guo, Feng Zhi-chun, Li Qiu-ping, Zhong Chun-xia, Li Zheng-dao, Lu Zhi-gang
Department of Pediatrics, Zhujiang Hospital, First Military Medical University, Guangzhou 510282, China.
Di Yi Jun Yi Da Xue Xue Bao. 2003 Mar;23(3):281-2.
We report our experience in successful unrelated-donor bone marrow transplantation in 2 cases of beta-thalassemia major, which are approved to be the first 2 cases in Asia. The 2 children receiving transplantation of the bone marrow from unrelated donors were diagnosed as having beta-thalassemia major, whose gene mutation type was homozygous and double heterozygote. High-resolution HLA typing found a mismatch with 1 sub-locus in both cases, and red blood cell type was mismatched in 1 case. Pretransplant conditioning protocol contained busulfan (BU, 16 mg/kg x b.w.), cyclosphamide (CY, 200 mg/kg x b.w.), anti-thymocyte globulin (ATG, 90 mg/kg x b.w.) and fludarabine (25 mg x d-1 x m-2). To prevent graft-versus-host disease (GVHD) episodes, cyclosporine-A (Cs-A) and methotrexate (MTX) were administered. The 2 cases experienced condition resembling serum sickness during pretransplant conditioning. After bone marrow transplantation, 1 case had grade acute GVHD in the skin, another developed grade acute GVHD in both the skin and intestinal tract, but the condition was brought under control in both cases after proper treatment. The time for peripheral neutrophil granulocyte recovery to above 0.5 x 10(9)/L was 19 and 16 days postoperatively, respectively, and the time of WBC recovery to normal was 54 and 80 days postoperatively. Platelet recovery to over 50 x 10(9)/L occurred on postoperative days 61 and 90, and Hb recovered to above 100 g/L in both case on days 110 and 83 respectively. The time of final blood transfusion was 53 and 62 days postoperatively for the 2 patients. Gene mutation type in the 2 cases was switched to normal of the donors. After retrieval of relative literature, the 2 cases were approved as the first 2 successful unrelated-donor bone marrow transplantation cases in Asia. This will provide a new possibility of donor supply for hematopoietic stem cells transplantation in thalassemia.
我们报告了2例重型β地中海贫血患者成功接受非亲属供者骨髓移植的经验，这2例被批准为亚洲首例。2名接受非亲属供者骨髓移植的儿童被诊断为重型β地中海贫血，基因突变类型为纯合子和双重杂合子。高分辨率HLA分型发现2例均有1个基因座不匹配，1例红细胞血型不匹配。移植前预处理方案包括白消安（BU，16mg/kg×体重）、环磷酰胺（CY，200mg/kg×体重）、抗胸腺细胞球蛋白（ATG，90mg/kg×体重）和氟达拉滨（25mg×d - 1×m - 2）。为预防移植物抗宿主病（GVHD）发作，给予环孢素A（Cs - A）和甲氨蝶呤（MTX）。2例在移植前预处理期间出现类似血清病的情况。骨髓移植后，1例皮肤出现Ⅰ度急性GVHD，另1例皮肤和肠道均出现Ⅱ度急性GVHD，但经适当治疗后2例病情均得到控制。外周血中性粒细胞恢复至0.5×10⁹/L以上的时间分别为术后19天和16天，白细胞恢复正常的时间分别为术后54天和80天。血小板恢复至50×10⁹/L以上分别在术后第61天和第90天，2例血红蛋白分别在第110天和第83天恢复至100g/L以上。2例患者最后一次输血时间分别为术后53天和62天。2例患者的基因突变类型均转变为供者正常类型。检索相关文献后，这2例被批准为亚洲首例成功的非亲属供者骨髓移植病例。这将为地中海贫血造血干细胞移植提供新的供者来源可能性。
