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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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Inheritance


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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.  [1]
Last updated: 2/1/2011

References
  1. Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed 2/1/2011.