title: 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.
authors.affiliation: The Feinstein Institute for Medical Research, Manhasset, NY, USA. avlachos@lij.edu
authors.forename: Adrianna
authors.initials: A
authors.lastname: Vlachos
authors.forename: Sarah
authors.initials: S
authors.lastname: Ball
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.forename: Sujit
authors.initials: S
authors.lastname: Sheth
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Joerg
authors.initials: J
authors.lastname: Meerpohl
authors.forename: Stefan
authors.initials: S
authors.lastname: Karlsson
authors.forename: Johnson M
authors.initials: JM
authors.lastname: Liu
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
authors.forename: Carole
authors.initials: C
authors.lastname: Paley
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Kang
authors.forename: Eva Judmann
authors.initials: EJ
authors.lastname: Leder
authors.forename: Eva
authors.initials: E
authors.lastname: Atsidaftos
authors.forename: Akiko
authors.initials: A
authors.lastname: Shimamura
authors.forename: Monica
authors.initials: M
authors.lastname: Bessler
authors.forename: Bertil
authors.initials: B
authors.lastname: Glader
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Lipton
mesh_terms: D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002648:Child; D000013:Congenital Abnormalities / Q000209:etiology; D003937:Diagnosis, Differential; D017707:Erythrocyte Transfusion; D005260:Female; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000627:therapeutic use; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D009369:Neoplasms / Q000209:etiology; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D005938:Glucocorticoids