TY  - JOUR
TI  - Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease
AV  - restricted
VL  - 61
Y1  - 2023/09//
EP  - 17
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
N2  - 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.
ID  - discovery10201279
PB  - Elsevier
UR  - https://doi.org/10.1016/j.blre.2023.101097
SN  - 0268-960X
JF  - Blood Reviews
A1  - Iskander, Deena
A1  - Roy, Noémi BA
A1  - Payne, Elspeth
A1  - Drasar, Emma
A1  - Hennessy, Kelly
A1  - Harrington, Yvonne
A1  - Christodoulidou, Chrysi
A1  - Karadimitris, Anastasios
A1  - Batkin, Leisa
A1  - De la Fuente, Josu
KW  - Diamond-Blackfan anemia
KW  -  Adults
KW  -  Bone marrow failure
KW  -  Patient engagement
KW  -  Transition
KW  -  Iron overload
KW  -  Genetic screening
KW  -  Cancer predisposition
ER  -