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 life is increasing due to an expanding repertoire of implicated genes, improvements in genetic diagnosis and increasing life expectancy. To standardize and optimize care for this rare disease, in this report an updated guidance on the diagnosis and management of DBA, with a specific focus on older adolescents and adults is provided. Recommendations are based upon published literature and pooled clinical experience from three centres in the United Kingdom. Read the full article here.