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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.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Vlachos A,Ball S,Dahl N,Alter BP,Sheth S,Ramenghi U,Meerpohl J,Karlsson S,Liu JM,Leblanc T,Paley C,Kang EM,Leder EJ,Atsidaftos E,Shimamura A,Bessler M,Glader B,Lipton JM,Participants of Sixth Annual Daniella Maria Art

doi

10.1111/j.1365-2141.2008.07269.x

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

859-76

issue

6

eissn

0007-1048

issn

1365-2141

pii

BJH7269

journal_volume

142

pub_type

共识发展会议,杂志文章

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