Vowels M R, Berdoukas V, Lam-Po-Tang P R, Ford D
Med J Aust. 1986 Mar 31;144(7):372, 374. doi: 10.5694/j.1326-5377.1986.tb115927.x.
An 18-month-old boy with beta-thalassaemia major underwent bone-marrow transplantation with marrow from his 30-month-old brother. The brother was HLA-identical, mixed-lymphocyte culture non-reactive and had thalassaemia minor. The patient was "conditioned" with busulphan and cyclophosphamide before transplantation and received methotrexate to prevent graft-versus-host disease. Immediately after the transplant, complications arose, which included mild graft-versus-host disease, gastrointestinal bleeding and fever. The boy is alive 18 months after transplantation, is leading a normal life, is receiving no therapy and has a normally functioning donor marrow with thalassaemia minor. Bone-marrow transplantation may be considered as alternative therapy in patients with beta-thalassaemia who are young, and who have no organ dysfunction or iron overload. Chronic transfusion and chelation therapy and its problems must be weighed against the 13% risk of mortality and the 73% chance of a normal life that are associated with transplantation. Older patients, who have received multiple blood transfusions, have iron overload or have organ dysfunction, have a low survival rate after transplantation and this therapy is inappropriate for such patients.
一名患有重型β地中海贫血的18个月大男孩接受了来自其30个月大哥哥的骨髓移植。哥哥与他HLA配型相同，混合淋巴细胞培养无反应，患有轻型地中海贫血。患者在移植前接受了白消安和环磷酰胺的“预处理”，并接受甲氨蝶呤以预防移植物抗宿主病。移植后立即出现了并发症，包括轻度移植物抗宿主病、胃肠道出血和发热。该男孩在移植后18个月存活，过着正常生活，未接受任何治疗，供体骨髓功能正常，患有轻型地中海贫血。对于年轻、无器官功能障碍或铁过载的β地中海贫血患者，可考虑将骨髓移植作为替代疗法。必须将慢性输血和螯合疗法及其问题与移植相关的13%的死亡风险和73%的正常生活机会进行权衡。接受过多次输血、有铁过载或器官功能障碍的老年患者，移植后的生存率较低，这种疗法不适用于此类患者。
