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Diagnosis and Treatment Spectrum for Diamond-Blackfan Anemia: A Single Center Experience
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  • Erin Goode,
  • Paulo Pena,
  • Ashnaa Rao,
  • Sanjay Shah
Erin Goode
Phoenix Children's Hospital Center for Cancer and Blood Disorders

Corresponding Author:[email protected]

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Paulo Pena
The University of Arizona College of Medicine Phoenix
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Ashnaa Rao
Phoenix Children's Hospital General Pediatrics
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Sanjay Shah
Phoenix Children's Hospital Center for Cancer and Blood Disorders
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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.