title: Success of bone marrow transplantation in congenital Diamond-Blackfan anaemia: a case report.
abstract: A 6-yr-old girl with congenital corticosteroid-resistant pure red cell aplasia was treated with bone marrow transplant from her HLA-identical, MLC-unreactive sister in November 1984 following conditioning with busulfan and cyclophosphamide. Full engraftment was obtained and the patient at 21 months post-transplant is in excellent clinical condition maintaining normal red cell counts. We conclude that BMT should be considered as a therapy for at least the most severe cases of Diamond-Blackfan anaemia resistant to corticosteroids. Successful outcome of this therapy provides an argument for the stem cell origin of this disorder.
mesh_terms: D016026:Bone Marrow Transplantation; D002648:Child; D005260:Female; D006128:Growth; D006412:Hematopoietic Stem Cells / Q000502:physiology; D006801:Humans; D012010:Red-Cell Aplasia, Pure / Q000151:congenital / Q000628:therapy*