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目的为进一步拓展供髓源,探讨非血缘相关骨髓移植治疗重型地中海贫血(简称地贫)的可行性。方法9例地贫患儿进行了非血缘骨髓移植,其基因突变类型为地贫纯合子或双重杂合子,均确诊为重型β地贫。HLA高分辨配型全相合2例,1个亚型不合5例,2个亚型不合2例,6例红细胞血型不合。预处理为白消安16mg/kg,分4天口服;环磷酰胺200mg/kg,分4天静滴;抗人胸腺细胞免疫球蛋白30mg/kg,分3天静滴和氟达拉宾125mg/m2,分3天静滴。环孢素A和氨甲蝶呤预防移植物抗宿主病(graftversushostdisease,GVHD)。结果9例患儿均出现明显的过敏反应,1例有一过性低血压,皮肤急性GVHD7例,肝脏GVHD1例,肠道GVHD2例,慢性GVHD1例,高血压脑病1例,间质性肺炎2例。1例急性肺出血死亡。外周血中性粒细胞>0.5×109/L的时间为12～26天,WBC恢复正常的时间为23～110天,PLT于61～142天>50×109/L,Hb则于23～116天升至100g/L,最后一次输血时间为13～62天。PCR扩增短串联重复序列检测证实:8例患儿获得完全供体植入,1例未植入。随访6～24个月,7例原重型β地贫基因已消失,5例血型不合者已转成供者相同血型;7例患儿术后无需输血,Hb维持在110g/L以上。结论本组9例重型地贫的非血缘骨髓移植为国内首次尝试,初步证明非血缘骨髓移植根治重型地贫较安全可靠,为解决本病移植治疗的供髓源提供了新途径。
Objective To further expand the sources of marrow for the feasibility of non-blood-related bone marrow transplantation for the treatment of thalassemia major (referred to as thalassemia) feasibility. Methods Nine non-blood-borne bone marrow transplants were performed in 9 poor children. The type of gene mutation was homozygous for thalassemia or double heterozygote, all of which were diagnosed as severe β-thalassemia. HLA matched high-resolution match all 2 cases, 1 subtype 5 cases, 2 subtype 2 cases, 6 cases of red blood cell type incompatibility. Pretreatment of busulfan 16mg / kg, 4 days oral; cyclophosphamide 200mg / kg, intravenous infusion of 4 days; anti-human thymocyte immunoglobulin 30mg / kg, intravenous infusion of 3 days and fludarabine 125mg / m2, intravenous infusion in 3 days. Cyclosporine A and methotrexate prevent graft versus host disease (GVHD). Results All the 9 patients had obvious anaphylactic reaction. One patient had transient hypotension, 7 cases of acute GVHD, 1 case of hepatic GVHD, 2 cases of intestinal GVHD, 1 case of chronic GVHD, 1 case of hypertensive encephalopathy, 2 cases of interstitial pneumonia . One patient died of acute pulmonary hemorrhage. Peripheral blood neutrophils> 0.5 × 109 / L for 12 to 26 days, WBC returned to normal for 23 to 110 days, PLT for 61 to 142 days> 50 × 109 / L, Hb in 23 to 116 Days rose to 100g / L, the last blood transfusion time is 13 to 62 days. PCR amplification of a short tandem repeat test confirmed: 8 children received complete donor implantation, 1 case not implanted. During the follow-up period of 6-24 months, 7 cases of primary thalassemia gene had disappeared and 5 cases of blood group incompants had been transferred to the same blood type of donor. No blood transfusion was required in 7 cases, and the Hb level was maintained above 110 g / L. CONCLUSION: Non-borderline bone marrow transplantation in 9 patients with severe thalassemia was the first attempt in our country to initially prove that non-borderline bone marrow transplantation is safe and reliable in treating patients with severe thalassemia. This provides a new way to solve this problem.