造血干细胞移植治疗重型β地中海贫血  

Hematopoietic stem cell transplantation for β-thalassemia major

作　　者：朱为国[1] 杨明[1] 何岳林[1] 李夏新[1] 黄绍良[2] 廖灿[3] 庄晓青[1] 程少杰[1] 

机构地区：[1]第一军医大学南方医院儿科,广州510515 [2]中山医科大学第二附属医院 [3]广州市妇婴医院

出　　处：《中华医学杂志》2000年第4期265-266,共2页National Medical Journal of China

摘　　要：目的　探讨造血干细胞移植治疗重型 β地中海贫血 (简称地贫 )的可行性。 方法　对 4例地中海贫血的患儿进行了同胞骨髓或脐带血移植 ,这 4例患儿基因突变型为纯合子 ,均确诊为重型β地贫。 4例中 2例人类白细胞相关抗原 (HLA)全相合 ,2例 1个位点不全相合 ,1例血型不同。预处理方案为白消安 16mg/kg、环磷酰胺 2 0 0mg/kg、抗人胸腺细胞免疫球蛋白 90mg/kg,用环孢素A和氨甲蝶呤预防移植物抗宿主病 (graft versus hostdisease,GVHD)。结果　 2例出现血清病样预处理反应 ,2例出现Ⅱ度急性GVHD ,1例慢性GVHD ,1例肝静脉栓塞综合征 ,1例巨细胞病毒间质性肺炎和 1例霉菌性败血症 ,但均获得良好控制。外周血白细胞移植后在平均 16d时 >1.0× 10 9/L ,中性粒细胞 18d >0 .5× 10 9/L ,平均 2 4d白细胞恢复正常 ,血小板在平均 5 9d >5 0× 10 9/L ,血红蛋白在平均 39d时升至 10 0g/L ,最后一次输血时间平均为 2 9d ,4例患儿移植前平均每 2个月需输血 10 0ml左右 ,移植后至今已 7～ 15个月未输血 ,血红蛋白持续 10 0g/L以上 ,且均已从重型地贫基因型转变为供者的基因型。结论　本工作表明骨髓和脐带血造血干细胞移植有可能根治重型 β地贫血。Objective To discuss the feasibility of hematopoietic stem cell transplantation for β thalassemia major. Methods Bone marrow or cord blood of sibling was transplanted to 4 children with thalassemia, whose type of gene mutations was homozygous. All of them were diagnosised as β thalassemia major. HLA type was matched in 2 cases, and mismatched with 1 locus in the other 2. RBC type was mismatched in 1 cases. Pretransplant condition including busulfan (BU) 16 mg/kg, cyclophosphamide (CY) 200 mg/kg and anti thymocyte globulin (ATG) 90 mg/kg. Graft versus host disease (GVHD) prophylaxis was cyclosporine A (Cs A) and methotrexate (MTX). Results Two Children had “serum sickness” during pretransplant condition; two children had grade Ⅱ acute GVHD and 1 developed chronic GVHD, 1 case veno occlusive disease (VOD), 1 case cytomegalovirus (CMV) interstitial pneumonia and 1 case fungemia post transplant, which had been cured. The average time for peripheral WBC recovery>1.0×10 9/L was 16 days, 18 days for neutrophile granulocyte>0.5×10 9/L, 59 days for Plt>50×10 9/L and 39 days for Hb>100 g/L. The average time for WBC recovery to normal was at day 24. The average time of last blood transfusion for patients was 29 days. The patients had to receive about 100 ml blood infusion per 2 months pretransplant, while not infused for 7～15 months up to now with Hb>100 g/L. Gene mutation type of patients had changed to donor's. Conclusion We report a successful transplantation of bone marrow and cord blood stem cells for thalassemia major in China. This will give a new strategy for treatment of the disease and further expand the use of stem cells transplantation.

关 键 词：β地海贫血 造血干细胞移植 临床研究 

分 类 号：R556[医药卫生—血液循环系统疾病]