Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Vlachos, Adrianna ; Ball, Sarah ; Dahl, Niklas ; Alter, Blanche P. ; Sheth, Sujit ; Ramenghi, Ugo ; Meerpohl, Joerg ; Karlsson, Stefan LU orcid ; Liu, Johnson M. and Leblanc, Thierry , et al. (2008) In British Journal of Haematology 142(6). p.859-876
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cancer predisposition, Diamond Blackfan anaemia, bone marrow failure, genetics, treatment
in
British Journal of Haematology
volume
142
issue
6
pages
859 - 876
publisher
Wiley-Blackwell
external identifiers
  • wos:000258604200001
  • scopus:50049093522
ISSN
0007-1048
DOI
10.1111/j.1365-2141.2008.07269.x
language
English
LU publication?
yes
id
20608247-1a14-4885-bd9a-fbd15af1b2a4 (old id 1252022)
date added to LUP
2016-04-01 12:37:18
date last changed
2022-08-21 17:31:30
@article{20608247-1a14-4885-bd9a-fbd15af1b2a4,
  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.}},
  author       = {{Vlachos, Adrianna and Ball, Sarah and Dahl, Niklas and Alter, Blanche P. and Sheth, Sujit and Ramenghi, Ugo and Meerpohl, Joerg and Karlsson, Stefan and Liu, Johnson M. and Leblanc, Thierry and Paley, Carole and Kang, Elizabeth M. and Leder, Eva Judmann and Atsidaftos, Eva and Shimamura, Akiko and Bessler, Monica and Glader, Bertil and Lipton, Jeffrey M.}},
  issn         = {{0007-1048}},
  keywords     = {{cancer predisposition; Diamond Blackfan anaemia; bone marrow failure; genetics; treatment}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{859--876}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{British Journal of Haematology}},
  title        = {{Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference}},
  url          = {{http://dx.doi.org/10.1111/j.1365-2141.2008.07269.x}},
  doi          = {{10.1111/j.1365-2141.2008.07269.x}},
  volume       = {{142}},
  year         = {{2008}},
}