Anémie de Blackfan-Diamond : actualités

Diamond-Blackfan Anemia is now identified as the leader of ribosomal diseases and this has paved the way for many basic researches on erythropoiesis. The overall care is remained classic, bust must be still optimized in any patient and the clinician can be helped to do so by a recent consensus conference. In practice, the dangers of steroids, unusually prolonged in this very disease, are now highlighted and lead to not test this approach before 12 months of age and to no longer tolerate as heavy dosages as before. In transfused children, chelation must be early and intensive with the aim of eliminating the iron overload related toxicities. The benefit of early allograft is also emphasized and it should be offered to all children with transfusion-dependency and a sibling donor. New therapeutic approaches are currently being evaluated. Finally, the identification of genes now allows genetic counseling facility for most of the families.