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Diseases

Genetic and Rare Diseases Information Center (GARD)

Diamond-Blackfan anemia


Other Names for this Disease
  • DBA
  • Anemia Diamond Blackfan type
  • Blackfan Diamond syndrome
  • BDS
  • Anemia congenital erythroid hypoplastic
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Inheritance

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How is Diamond-Blackfan anemia inherited?

Diamond-Blackfan anemia is most commonly inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation ) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. A person with Diamond-Blackfan anemia has a 50% chance with each pregnancy of passing along the altered gene to his or her child. 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. In rare cases,  Diamond-Blackfan anemia can be inherited in an X-linked manner. [1]
Last updated: 12/3/2015

References
  1. Clinton, C, Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed 12/3/2015.


Other Names for this Disease
  • DBA
  • Anemia Diamond Blackfan type
  • Blackfan Diamond syndrome
  • BDS
  • Anemia congenital erythroid hypoplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.