Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease

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...

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Published in:Blood reviews 2023-09, Vol.61, p.101097-101097, Article 101097
Main Authors: Iskander, Deena, Roy, Noémi B.A., Payne, Elspeth, Drasar, Emma, Hennessy, Kelly, Harrington, Yvonne, Christodoulidou, Chrysi, Karadimitris, Anastasios, Batkin, Leisa, de la Fuente, Josu
Format: Article
Language:English
Subjects:
Adults
Bone marrow failure
Cancer predisposition
Diamond-Blackfan anemia
Genetic screening
Iron overload
Patient engagement
Transition
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Summary: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. •Diamond-Blackfan anemia syndrome is defined as pathogenic variant(s) in DBA-associated genes, with or without anemia.•The number of adults with DBA is increasing due to improved genetic diagnosis and increased life expectancy.•Adults with DBA are affected by side-effects of drugs and transfusions, pregnancy complications and increased cancer risks.•Transition from paediatric to adult services is a gradual process requiring a multidisciplinary team.
ISSN:0268-960X
1532-1681
DOI:10.1016/j.blre.2023.101097