TY - JOUR
T1 - Diagnosing and treating Diamond Blackfan anaemia
T2 - Results of an international clinical consensus conference
AU - Vlachos, Adrianna
AU - Ball, Sarah
AU - Dahl, Niklas
AU - Alter, Blanche P.
AU - Sheth, Sujit
AU - Ramenghi, Ugo
AU - Meerpohl, Joerg
AU - Karlsson, Stefan
AU - Liu, Johnson M.
AU - Leblanc, Thierry
AU - Paley, Carole
AU - Kang, Elizabeth M.
AU - Leder, Eva Judmann
AU - Atsidaftos, Eva
AU - Shimamura, Akiko
AU - Bessler, Monica
AU - Glader, Bertil
AU - Lipton, Jeffrey M.
PY - 2008/9
Y1 - 2008/9
N2 - 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.
AB - 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.
KW - Bone marrow failure
KW - Cancer predisposition
KW - Diamond Blackfan anaemia
KW - Genetics
KW - Treatment
UR - http://www.scopus.com/inward/record.url?scp=50049093522&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2141.2008.07269.x
DO - 10.1111/j.1365-2141.2008.07269.x
M3 - Review article
SN - 0007-1048
VL - 142
SP - 859
EP - 876
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 6
ER -