Diamond-Blackfan Anemia

Not Verified
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Disease overview

Blood disorder where the bone marrow can't create red blood cells, leading to anemia within the first year of life

Common symptoms

Moderate to severe RBC deficiency on labsalong with symptoms of anemia eg fatiguepallortachycardiaweaknesspoor appetitehalf of those affected have physical abnormalities such as microcephalywide-set eyesflat nosesmall and low-set earsmicrognathiacleft palateand smallmissingor extra thumbs

WHEN TO SUSPECT

  • Recommendation 1

    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

HOW TO TEST

  • Recommendation 1

    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

  • Recommendation 1

    Red cell tranfusions for the first year of life, after which patients are started on corticosteroids. Bone marrow/stem cell transplantation is definitive treatment

PRIMARY CARE

  • Recommendation 1

    Chronic transfusion therapy if patient does not respond to corticosteroids, as well as chelation therapy

FURTHER SUPPORT

  • Recommendation 1

    Hematologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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