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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Diamond-Blackfan anemia


Other Names for this Disease
  • Anemia congenital erythroid hypoplastic
  • Anemia Diamond Blackfan type
  • Aregenerative anemia chronic congenital
  • BDS
  • Blackfan Diamond syndrome
More Names
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Overview



What is Diamond Blackfan anemia?

How is Diamond-Blackfan anemia inherited?

How might Diamond-Blackfan anemia be treated?


What is Diamond Blackfan anemia?

Diamond Blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life.[1] Anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. Individuals with Diamond Blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature.[2]  The cause of Diamond Blackfan anemia is often unknown. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. [3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.[1]    
Last updated: 2/1/2011

How is Diamond-Blackfan anemia inherited?

Diamond-Blackfan anemia is inherited in an autosomal dominant pattern.  Approximately one-half of affected individuals have inherited their mutation from a parent and about one-half have a new (de novo) mutation.  People with Diamond-Blackfan anemia may not appear to have a family history of the condition if relatives have very mild signs and symptoms.  Each child of an individual with with Diamond-Blackfan anemia has a 50% chance of inheriting the mutation.  [3]
Last updated: 2/1/2011

How might Diamond-Blackfan anemia be treated?

To treat very low red blood cell counts in people with DBA the two most common options are corticosteroid medication and blood transfusions. Corticosteroid treatment is recommended in children over 1 years old and can initially improve the red blood count in approximately 80% of people with DBA. Bone marrow/stem cell transplantation might also be considered and is the only curative treatment. Some people may not need any specific treatment.[3]
Last updated: 3/20/2014

References
  1. Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2011; http://www.cdc.gov/ncbddd/dba/facts.html. Accessed 2/1/2011.
  2. Diamond Blackfan Anemia: The Disease. Diamond Blackfan Anemia Foundation, Inc.. 2008; http://www.dbafoundation.org/about.php. Accessed 2/1/2011.
  3. Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed 2/1/2011.