SummaryDiamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.

The alloimmunization rate is 29 percent in pediatric and 47 percent in adult sickle cell patients when partial or extended RBC antigen match is not performed. However, the delayed serologic and/or hemolytic transfusion reactions did not result in severe clinical outcome in most instances. The most important adverse event was hyperhemolysis, which may be triggered by a transfusion, but was not prevented by matching for RBC antigens. In most instances, the cause of hyperhemolysis was multifactorial.