Diamond-Blackfan anemia medical therapy

Diamond-Blackfan anemia Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Medical Therapy

• Corticosteroids can be used to treat anemia in DBA. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted. Some patients remained responsive to steroids, while efficacy waned in others. Individuals with DBA, especially those on corticosteroid treatment, should take reasonable precautions to avoid infections
• Blood transfusions can also be used to treat severe anemia in DBA. Periods of remission may occur, during which transfusions and steroid treatments are not required.
• Bone marrow transplantation (BMT) can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However, data from a large DBA patient registry indicated that adverse events in transfusion-dependent patients were more frequently caused by BMTs than iron overloading.
• Cancer treatment
• Prevention of secondary complications:
• Iron chelation
  • Deferasirox is recommended in individuals age two years or older.
  • Desferrioxamine
• Evaluation of Relatives at Risk
  • Molecular genetic testing if the pathogenic variant in the family is known
  • Consideration of other testing (e.g., mean corpuscular volume, eADA, and/or fetal hemoglobin concentration) if the pathogenic variant in the family is not known – especially of relatives being considered as bone marrow donors