Diagnosis and Treatment Spectrum for Diamond-Blackfan Anemia: A Single
Center Experience
Abstract
Diamond-Blackfan Anemia (DBA) is a rare congenital bone marrow failure
syndrome typically diagnosed during infancy and is characterized by
macrocytic anemia, congenital malformations, and predisposition to
cancer. There were 32 patients treated for DBA at a single tertiary care
referral center from 2000-2022. A retrospective chart review
characterized patient presentation at diagnosis, the clinical course of
each patient, and the various treatment strategies with correlation to
patient outcome. Our study emphasizes the importance of screening for
DBA in patients who present with macrocytic anemia regardless of age at
presentation as a substantial proportion of patients presented after
infancy.