Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

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title = "Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference",
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.",
keywords = "cancer predisposition, Diamond Blackfan anaemia, bone marrow failure, genetics, treatment",
author = "Adrianna Vlachos and Sarah Ball and Niklas Dahl and Alter, {Blanche P.} and Sujit Sheth and Ugo Ramenghi and Joerg Meerpohl and Stefan Karlsson and Liu, {Johnson M.} and Thierry Leblanc and Carole Paley and Kang, {Elizabeth M.} and Leder, {Eva Judmann} and Eva Atsidaftos and Akiko Shimamura and Monica Bessler and Bertil Glader and Lipton, {Jeffrey M.}",
year = "2008",
doi = "10.1111/j.1365-2141.2008.07269.x",
language = "English",
volume = "142",
pages = "859--876",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Federation of European Neuroscience Societies and Blackwell Publishing Ltd",
number = "6",