Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia

We report on a case of pyridoxine refractory hereditary sideroblastic anaem ia (HSA) in a 19-year-old man who underwent peripheral blood stem cell tran splantation (PBSCT) from his HLA-identical brother, By using short tandem r epeat polymorphism, 100% donor cells were observed in peripheral blood on d ay +21; bone marrow showed mixed chimaerism from day +21 to day +221, when 100% cells of donor origin were observed. The patient developed extensive c hronic graft-versus-host disease with favourable response to treatment. Whe n the haemoglobin range was normal, a programme of phlebotomies reduced ser um ferritin levels. Three years after transplantation, the patient has an E COG rating of 0, with completely normal haemoglobin values (15 g/dl). To ou r knowledge, this is the first PBSCT reported in a case of hereditary sider oblastic anaemia.