Bone marrow transplantation in two multiply transfused patients with thalassaemia major

Bone marrow transplantation has generally been unsuccessful when applied to patients with thalassaemia major over the age of 6 years. We report here two successful transplants for this disorder in a 7 1/2-year-old boy and an 11-year-old girl following a pre-transplant cytoreductive/immunosuppressive regimen of total body irradiation and cyclophosphamide. Complete durable engraftment of donor haematopoietic and lymphoid populations was documented through several approaches, including cytogenetic analysis, haemoglobin electrophoresis, globin chain synthetic ratios, red cell typing and DNA restriction enzyme analysis. Both patients are surviving in good health, 28 and 9 months from transplantation. The successful outcome in these patients demonstrates the feasibility of marrow transplantation for the treatment of thalassaemia in multiply transfused and, presumably, highly sensitized patients.