骨髓移植治疗重型地中海贫血  

Bone marrow transplantation for β-Thalassemia major

作　　者：朱为国[1] 杨明[1] 邢献志[1] 何岳林[1] 庄晓青[1] 官贵先[1] 钱新华[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

出　　处：《中华医学遗传学杂志》2000年第2期79-81,共3页Chinese Journal of Medical Genetics

摘　　要：目的　探讨骨髓移植治疗重型地中海贫血的可行性。方法　对 1例确诊为重型 β地中海贫血的患儿进行骨髓移植 ,患儿基因突变型为 CD41- 42 /6 5 4,移植同胞哥哥的骨髓 85 0 m l,有核细胞 :5 .6×10 8/kg,CD34 + 细胞 :7.8× 10 6 /kg,粒 -巨噬细胞集落形成单位 :5 .7× 10 5 /kg,HL A- DR一个位点不合 ,血型相同 ,预处理方案为白消安 :16 mg/kg、环磷酰胺 :2 0 0 m g/kg、抗人胸腺细胞免疫球蛋白 :88mg/kg,环孢 A和甲氨喋呤预防移植物抗宿主病 (Graft- versus- hostdisease,GVHD)。结果　移植后出现 度急性 GVHD和巨细胞病毒间质性肺炎 ,均获得控制。白细胞 (WBC)移植后 14天为 1.1× 10 9/L,中性粒细胞 0 .4× 10 9/L ,18天 WBC 4.5× 10 9/L ,由于受更昔洛韦副作用影响 ,WBC曾一度下降 ,3个月后恢复正常 ,血小板(Plt)移植后 86天 >5 0× 10 9/L ,5个半月恢复正常 ,移植后 12 8天血红蛋白 (Hb)升至 10 6 g/L ,最后一次输血时间为移植后 10 3天。移植前平均每月输血 2 0 0 ml,移植 10 3天后至今 6个多月未输血 ,Hb保持在 110 g/L以上。地中海贫血基因型已转为供者的。结论　骨髓造血干细胞移植可根治重型地中海贫血 ,为该病的治疗提供了新思路与途径。治疗移植后巨细胞病毒感染 (间质性肺炎 ) 。Objective To examine the feasibility of bone marrow hematopoietic stem cell transplantation for thalassemia major. Methods Bone marrow transplantation was performed on a 4 year old patient with β thalassemia major, whose gene mutation was CD41 42/654. The donor was his brother. In the 850ml bone marrow, the nucleated cells were 5.6×10 8 /kg, CD + 34 cells 7.8×10 6/kg, and colony forming unit granulocyte macrophages(CFU GM) 5.7×10 5/kg. HLA was one site mismatched, while RBC type matched. Pre transplant conditions included Busulfan 16mg/kg,cyclophosphamide 200mg/kg, and lymphoglobuline 88mg/kg. Cyclosporine and methotrexate were used for prevention of graft versus host disease(GVHD). Results After transplantation, the patient had grade II acute GVHD and cytomegalovirus(CMV) interstitial pneumonia; he was cured. White blood cells (WBC) and neutrophil granulocytes recovered to 1.1×10 9/L and 0.4×10 9/L respectively on day 14 post transplantation. WBC was 4.5×10 9/L on day 18, and descended for a time during treating interstitial pneumonia with Ganciclovir. Platelet(Plt) exceeded 50×10 9/L on day 86 and recovered to normal 5 months and a half post transplantation. Hb reached 106g/L on day 128. The patient received the last blood transfusion on day 103. Before transplantation, the patient had to receive 200ml blood infusion per month for maintaining Hb 60 90g/L; after transplantation, his Hb kept up >110g/L for 6 months without blood transfusion. The gene type had changed to donor's CD41 42/N heterozygen.Conclusion This is the first report on successful transplantation of bone marrow stem cell for thalassemia major in China,suggesting a new way to treat the disease and to expand the use of BMT. For treatment of CMV interstitial pneumonia post transplantation,Ganciclovir should be dose enough and be used for at least 2 months.

关 键 词：骨髓移植 地中海贫血 造血干细胞 

分 类 号：R457[医药卫生—治疗学]