¹Department of Pediatric Oncohematology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

Correspondence: Dr J Sevilla, Hospital Infantil Universitario Niño Jesús, Avd Menéndez Pelayo 65, Madrid 28009, Spain. E-mail: jsevilla.hnjs@salud.madrid.org

Abstract

Several genetic diseases, generally considered as congenital diseases, are characterized by bone marrow failure during early childhood. Hematopoietic stem cell transplantation is the only curative treatment for syndromes involving bone marrow failure and thalassemia. In this slate-of-the-art review, we wish to focus on the results of hematopoietic transplantation in treating some of these diseases, with a special emphasis on congenital bone marrow failure and thalassemia. The results of this procedure have improved over the previous years, mainly when performed by experienced teams. New conditioning regimes based on fludarabine and the use of HLA-identical donors have been related with better survivals. In the previous years, donors other than HLA-identical siblings have been increasingly used in patients not responding to conventional measures, but this approach needs to be evaluated in larger studies.