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| Disease found: | Diamond-Blackfan Anemia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Blood disorder where the bone marrow can't create red blood cells, leading to anemia within the first year of life |
| Signs and Symptoms: | Moderate to severe RBC deficiency on labs, along with symptoms of anemia eg fatigue, pallor, tachycardia, weakness, poor appetite; half of those affected have physical abnormalities such as microcephaly, wide-set eyes, flat nose, small and low-set ears, micrognathia, cleft palate, and small, missing, or extra thumbs |
| Diagnosis: | Average age of presentation is 2 months, with average age of diagnosis at 3-4 months. Diagnosed with CBC showing macrocytic anemia, along with elevated erythrocyte adenosine deaminase level, and genetic testing can identify a mutation in ~80% of patients |
| Treatment: | Red cell tranfusions for the first year of life, after which patients are started on corticosteroids. Bone marrow/stem cell transplantation is definitive treatment |
| Clinical Management: | Chronic transfusion therapy if patient does not respond to corticosteroids, as well as chelation therapy |
| Referral: | Hematologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Stem cell transplant clinical trials currently recruiting, trial for steroid-refractory DBA, allogeneic stem cell transplant study |