Other Names for this Disease
- Aase syndrome
- Aase-Smith II syndrome
- Anemia congenital erythroid hypoplastic
- Anemia Diamond Blackfan type
- Aregenerative anemia chronic congenital
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Your QuestionWhat is the chance that a sibling of a child with Diamond-Blackfan anemia will also have the condition in a family with no prior history of Diamond-Blackfan anemia?
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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. 
Last updated: 2/1/2011
The chance that a sibling will also have Diamond-Blackfan anemia depends on the whether or not the affected person inherited a mutation from a parent. If a parent also has the mutation, then each sibling has a 50% chance of inheriting Diamond-Blackfan anemia. If the mutation is not found in either parent, then the risk for a sibling to be affected is low. 
Last updated: 10/15/2010
- Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed 2/1/2011.