Other Names for this Disease
- Anemia Diamond Blackfan type
- Blackfan Diamond syndrome
- Anemia congenital erythroid hypoplastic
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Some people have such mild signs and symptoms that they do not require treatment. The majority of people who do require treatment because of low red blood cell counts are prescribed corticosteroids and have blood transfusions. Corticosteroid treatment is recommended in children over 1 year of age; this treatment can initially improve the red blood count in approximately 80% of people with Diamond-Blackfan anemia. Bone marrow/stem cell transplantation might also be considered and is the only curative treatment for the anemia; however, patients should continue to be followed because they are at increased risk for leukemia and cancer. Results are better for children younger than ten years of age if transplanted using an Human Leukocyte Antigen (HLA)-matched sib.
Last updated: 2/18/2016
- Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.