Abstract
Diamond 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.
Highlights
Scientific advances in Diamond Blackfan anaemia (DBA) and the availability of reliable clinical data from well-characterized patient populations in international registries have resulted in a reconsideration of the diagnostic criteria and clinical management of DBA, developed at the 6th Annual Diamond Blackfan Anemia International Consensus Conference held in New York on April 16–18, 2005 and delineated in this ‘‘consensus document’’
In the North American Diamond Blackfan Anemia Registry (DBAR), where the majority of patients undergo formal genitourinary and cardiac imaging, the prevalence is higher at 19% and 15%, respectively
Since suppression of erythropoiesis is not a goal of transfusion in DBA, as it is in thalassemia major, trough hemoglobin levels of 80 g/l are usually acceptable for maintaining adequate growth and development
Summary
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. 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 first DBA gene, mutated in approximately 25% of patients, has been cloned and was identified as RPS19, which codes for a ribosomal protein located at chromosome 19q13.2 (Gustavsson et al, 1997; Draptchinskaia et al, 1999) The function of this protein in ribosome biogenesis is poorly understood. Studies have demonstrated the repair of defective hematopoiesis by increased rps protein expression in both rps19-deficient patient-derived progenitors a 2008 The Authors Journal Compilation a 2008 Blackwell Publishing Ltd, British Journal of Haematology doi:10.1111/j.1365-2141.2008.07269.x
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