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

• Red cell transfusions
  • Transfusions are usually the mainstay of treatment for the first year of life for the anemia of DBA. Also, Red blood transfusions are used for those patients who do not respond to corticosteroid treatment
• Corticosteroid therapy
  • after the first year patients are started on a course of treatment with corticosteroids and it remains the mainstay of treatment after the original report of their efficacy. 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

• Bone marrow transplantation (BMT)
  • It is the only curative treatment for the anemia of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. This can be done using an unaffected sibling or an unrelated donor.
• Periods of remission may occur, during which transfusions and steroid treatments are not required.
• Some patients who have such mild signs and symptoms do not require treatment.
• Cancer treatment
• Prevention of secondary complications
  • • Iron chelation
      • usually started after ten to 12 transfusions (170-200 mL/kg of packed red blood cells), when serum ferritin concentration reaches 1,000-1,500 µg/L, or when the hepatic iron concentration reaches 6-7 mg/g of dry weight liver tissue
    • 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