Success of bone marrow transplantation in congenital Diamond-Blackfan anaemia: a case report.

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.