HLA 2个位点不合同胞脐血移植治疗1例重型β地中海贫血  

Two HLA-loci Mismatched Sibling Cord Blood Transplantation in a Severe β-Thalassemia Patient

作　　者：孙新[1] 刘莎[1] 赵喆[1] 郝文革[1] 郭乃榄[2] 

机构地区：[1]广州市妇婴医院儿科,广州510180 [2]北京大学人民医院血液研究所,北京100044

出　　处：《中国实验血液学杂志》2003年第1期86-88,共3页Journal of Experimental Hematology

摘　　要：造血干细胞移植是目前治疗重型β地中海贫血最有效手段。本研究是国内第一次运用新的预处理和GVHD防治方案进行了HLA 2个位点不合同胞脐血移植 ,并成功地治疗 1例重型β地中海贫血患儿。男性病例 ,3.4岁 ,体重14kg,生后 6个月诊断为重型β地中海贫血 (HbA11.7% ,HbA2 1.7% ,HbF 86 .6 % ,基因突变型为CD17,A→T IVS II 6 5 4 ,C→T) ,其母再次怀孕 5个月时行产前诊断和HLA配型 ,胎儿为杂合子 17 N ,HLA 2个位点与患儿不合。收集脐血12 0毫升 ,有核细胞 1.830× 10 9,CFU GM 16 .6 5 3× 10 5,CD34+ 细胞 3.11× 10 6 。预处理方案 :大剂量输血 ,连续静脉注射去铁胺 ,马利兰 16mg kg +环磷酰胺 2 0 0mg kg +抗胸腺细胞球蛋白 90mg kg加用羟基脲 30mg (kg·d)× 33,氟哒拉宾2 0mg (m2 ·d)× 3。输入有核细胞 12 .0 6× 10 7 kg,CFU GM 1.0 98× 10 5 kg ,CD34+ 细胞 2 .0 4× 10 6 kg。GVHD预防 :环孢菌素A +骁悉 (MMF)。结果表明 ,移植后 15天出现Ⅰ度急性GVHD ,第 17天中性粒细胞 >0 .5× 10 9 L ,第 5 0天血小板 >5 0× 10 9 L ,第 80天后血红蛋白≥ 12 .5g L ,停止输血。移植后 6 0天和 2 0 0天作HLA分型及地中海贫血基因检测 ,HLA分型与脐血一致 ,基因突变型已由重型地中海贫血纯合子转变为与供者?Allogeneic hematopoietic stem cell transplantation is the only curative therapy for severe β thalassemia. This time, the experience of utilizing HLA 2 loci mismatched sibling cord blood transplantation (CBT) in a child with severe β thalassemia was firstly reported in our country. A 3 year male patient had been diagnosed with severe β thalassemia at 6 months of age (HbF 86.6%, HbA1 1.7%, HbA2 1.7%, β globin gene mutation CD17, A→T/IVS II 654, C→T). The patient′s HLA typing was A 24,11, B 58,35 and DRB1 03,15. During a subsequent maternal pregnancy. The prenatal diagnosis for thalassemia and prenatal HLA typing analysis were performed on 18 weeks of pregnancy. The results indicated that the male fetus was a heterozygote (β globin gene mutation N/CD17, A→T), HLA typing was A 24,11, B 58,51 and DRB1 03,12. 120 ml cord blood was collected at time of delivery, the total numbers of nucleated cells, CFU GM and CD34 + cells were 1.830×10 9, 16.653×10 5 and 3.11×10 6, respectively. A new conditioning regimen including: hypertransfusion, continuous i.v. desferrioxamine, busulfan, cyclophosphamide, antithymocyte globulin plus hydroxyurea and fludarabine. GVHD prophylaxis comprised cyclosporin A and mycophenolate mofetil. The viability of cord blood at the time infusion was 92%, The total numbers of nucleated cells, CFU GM and CD34 + cells in the transfused cord blood were 12.06×10 7/kg, 1.098×10 5/kg, and 2.04×10 6/kg, respectively. Results showed that the patient′s clinical course after cord blood transplantation was unremarkable. Acute GVHD grade Ⅰ developed on day 15, methylprednisolone 2 mg/kg was given to cure. Neutrophil engraftment (ANC> 0.5×10 9/L) on day 17, platelet engraftment (>50×10 9/L) on day 50. The patients became independent from red blood cell transfusion since day 80 (when his hemoglobin level kept >12.5 g/L). His β globin gene mutation and HLA typing were all the same as the donor′s analyzed on day 60 and 200. There was also a switch in blood group fr

关 键 词：Β地中海贫血 脐血移植 HLA2个位点不合同胞 

分 类 号：R556.610.5[医药卫生—血液循环系统疾病]