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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2008 (English)In: British Journal of Haematology, ISSN 0007-1048, E-ISSN 1365-2141, Vol. 142, no 6, 859-876 p.Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2008. Vol. 142, no 6, 859-876 p.
Keyword [en]
Diamond Blackfan anaemia, bone marrow failure, cancer predisposition, genetics, treatment
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-102958DOI: 10.1111/j.1365-2141.2008.07269.xISI: 000258604200001PubMedID: 18671700OAI: oai:DiVA.org:uu-102958DiVA: diva2:217106
Available from: 2009-05-13 Created: 2009-05-13 Last updated: 2011-01-13Bibliographically approved

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Dahl, Niklas
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