eprintid: 10201279
rev_number: 7
eprint_status: archive
userid: 699
dir: disk0/10/20/12/79
datestamp: 2024-12-10 15:47:40
lastmod: 2024-12-10 15:47:40
status_changed: 2024-12-10 15:47:40
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Iskander, Deena
creators_name: Roy, Noémi BA
creators_name: Payne, Elspeth
creators_name: Drasar, Emma
creators_name: Hennessy, Kelly
creators_name: Harrington, Yvonne
creators_name: Christodoulidou, Chrysi
creators_name: Karadimitris, Anastasios
creators_name: Batkin, Leisa
creators_name: De la Fuente, Josu
title: Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease
ispublished: pub
divisions: UCL
divisions: B02
divisions: C10
divisions: D19
divisions: G98
keywords: Diamond-Blackfan anemia, Adults, Bone marrow failure, Patient engagement, Transition, Iron overload, Genetic screening, Cancer predisposition
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome, usually caused by loss-of function variants in genes encoding ribosomal proteins. The hallmarks of DBA are anemia, congenital anomalies and cancer predisposition. Although DBA usually presents in childhood, the prevalence in later life is increasing due to an expanding repertoire of implicated genes, improvements in genetic diagnosis and increasing life expectancy. Adult patients uniquely suffer the manifestations of end-organ damage caused by the disease and its treatment, and transition to adulthood poses specific issues in disease management. To standardize and optimize care for this rare disease, in this review we provide updated guidance on the diagnosis and management of DBA, with a specific focus on older adolescents and adults. Recommendations are based upon published literature and our pooled clinical experience from three centres in the United Kingdom (U·K.). Uniquely we have also solicited and incorporated the views of affected families, represented by the independent patient organization, DBA U.K.
date: 2023-09
date_type: published
publisher: Elsevier
official_url: https://doi.org/10.1016/j.blre.2023.101097
full_text_type: other
language: eng
verified: verified_manual
elements_id: 2027980
doi: 10.1016/j.blre.2023.101097
medium: Print-Electronic
pii: S0268-960X(23)00058-9
lyricists_name: Payne, Elspeth
lyricists_id: EMCPA68
actors_name: Payne, Elspeth
actors_id: EMCPA68
actors_role: owner
funding_acknowledgements: [NIHR Academic Clinical Lectureship]; [Academy of Medical Sciences]; [British Society of Hematology (DI)]; [DBA U.K Award]
full_text_status: restricted
publication: Blood Reviews
volume: 61
article_number: 101097
pages: 17
event_location: England
issn: 0268-960X
citation:        Iskander, Deena;    Roy, Noémi BA;    Payne, Elspeth;    Drasar, Emma;    Hennessy, Kelly;    Harrington, Yvonne;    Christodoulidou, Chrysi;             ... De la Fuente, Josu; + view all <#>        Iskander, Deena;  Roy, Noémi BA;  Payne, Elspeth;  Drasar, Emma;  Hennessy, Kelly;  Harrington, Yvonne;  Christodoulidou, Chrysi;  Karadimitris, Anastasios;  Batkin, Leisa;  De la Fuente, Josu;   - view fewer <#>    (2023)    Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.                   Blood Reviews , 61     , Article 101097.  10.1016/j.blre.2023.101097 <https://doi.org/10.1016/j.blre.2023.101097>.      
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10201279/1/1-s2.0-S0268960X23000589-main.pdf