Diamond-Blackfan anemia medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Medical Therapy
- Corticosteroid therapy
- Corticosteroids remain 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.[1] 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
References
- ↑ Vlachos A, Klein GW, Lipton JM (2001). "The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia". J. Pediatr. Hematol. Oncol. 23 (6): 377–82. PMID 11563775.