亲代外周血造血干细胞移植成功治愈重型β-地中海贫血1例

目的　研究了亲代供者外周血造血干细胞移植治疗重型β-地中海贫血(简称地贫)的相关问题。方法　改进了预处理方案:采用生理反馈机制,即在预处理前进行了高频输注红细胞悬液,使Hb达13 0g/L以上,同时口服羟基脲抑制造血使术前地贫骨髓的富细胞性变成贫细胞性,使用抗胸腺细胞球蛋白(ATG)加强对宿主淋巴细胞的攻击力度,结合使用马利兰、氟达拉宾和环磷酰胺。预处理后输异基因外周血干细胞3次。三次输入MNC分别为3 5×10 9/kg ,4 8×10 8/kg及6 2×10 7/kg。结果　移植过程中出现Ⅱ°皮肤GVHD、出血性膀胱炎、霉菌感染等并发症,均得到有效控制。+ 16d(移植后为+ )外周血等位基因PCR -STR检测13位点证实10个不相同位点均转为供体型(供受者本身有三个位点相同) ,完全植入。并于移植后+ 70d复查证实仍为完全植入状态。目前患儿移植后已5月余,无cGVHD表现。已五个月未输血制品,白细胞正常,血小板维持在90G/L ,血红蛋白维持在110g/L。结论　亲代所供HLA一个亚型不相合的外周血造血干细胞移植治疗重症β-地中海贫血是简单、可行的

Cure of β- thalassemia major with peripheral blood stem cell transplantation by using a HLA matching parental donor: a case report

Objective To study some correlative issue of peripheral blood stem cell transplantation (PBSCT) for cure of β-thalassemia major by using a HLA matching parental donor. Methods An improved regimen: high dose blood infusion therapy was used as a normal feedback mechanism, and use anti-thymus globulin(ATG)intensiving aggressivity to host's lymphocyte. This regimen included busuifan, fludara and Cyclophosphamide. Results Completed donor chimerism was detected with PCR-STR on day +16 and day +70. A acute Ⅱ degree of GVHD? hemorrhagic cystitis and mould infection were seen. Until now, 5 months post transplantation, WBC was normal, platelet and Hb were above 90 G/L and 110 g/L respectively. Conclusion It was easy to success for perform PBSCT to treat β thalassmia by using HLA matching parent donor, though.