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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Author(s) -
Vlachos Adrianna,
Ball Sarah,
Dahl Niklas,
Alter Blanche P.,
Sheth Sujit,
Ramenghi Ugo,
Meerpohl Joerg,
Karlsson Stefan,
Liu Johnson M.,
Leblanc Thierry,
Paley Carole,
Kang Elizabeth M.,
Leder Eva Judmann,
Atsidaftos Eva,
Shimamura Akiko,
Bessler Monica,
Glader Bertil,
Lipton Jeffrey M.
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07269.x
Subject(s) - diamond–blackfan anemia , medicine , pediatrics , intensive care medicine , disease , natural history , rare disease , pathology , genetics , ribosome , rna , gene , biology
Summary 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.