Diamond-Blackfan anemia medical therapy

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

Patients with DBA are treated with corticosteroid therapy, Red blood cell transfusion, Stem cell transplantation, Cancer treatment, and management of related-therapies complications.

• 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. Although many side effects of corticosteroids were noted in patients under treatment of it.^[1] Treatment with corticosteroids can improve the anemia in 80% of patients, but individuals often become intolerant to long-term corticosteroid therapy and turn to regular red blood cell transfusions, which is the only available standard therapy for the anemia. ^[2]Chronic glucocorticoid therapy predisposes patients to iatrogenic Cushing syndrome and adrenal insufficiency.
• 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.
  • Chronic blood transfusions place patients at risk for the iron overload of the liver, heart, and endocrine organs. Growth failure, osteopenia, diabetes mellitus, and failure of the thyroid, parathyroids, adrenals, gonads, and pituitary gland may be related to therapy.^[3]

• Hematopoietic stem cell transplant (HSCT) is the sole curative option, but carries significant morbidity and is generally restricted to those with a matched related donor.^[4]

• Ultimately, 40% of case subjects remain dependent upon corticosteroids which increase the risk of heart disease, osteoporosis, and severe infections. Another 40% become dependent upon red cell transfusions which require regular chelation to prevent iron overload and increases the risk of alloimmunization and transfusion reactions, and can cause severe co-morbidities.

• Periods of remission may occur, during which transfusions and steroid treatments are not required. Remission defined as an adequate Hemoglobin level without any treatment, lasting 6 months, independent of prior therapy. 72% of patients experience remission during the first decade of life. Some of them have more than one remission in their life. Relapses usually occur after a viral illness.
• Some patients who have such mild signs and symptoms do not require treatment.[2]

Treatment of MDS, AML, or other cancer which may be seen in patients with DBA.

• 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

One of the critical side effects of corticosteroids is growth retardation. If growth retardation is severely impaired, corticosteroids should be stopped.^[5]