Other Names for this Disease
- Anemia Diamond Blackfan type
- Blackfan Diamond syndrome
- Anemia congenital erythroid hypoplastic
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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The chance that a sibling will also have Diamond-Blackfan anemia depends on the underlyng inheritance pattern and whether or not the mutation has been inherited from a parent. For the majority of cases inherited in an autosomal dominant pattern, if the mutation was found in either parent, child has a 50% chance of inheriting Diamond-Blackfan anemia. Rarely, mutations are inherited in an X-linked pattern. If mutations are identified in either parent, the risk for inheritance is dependent on the sex of the parent and the child. At most, the risk would be 50%. If the mutation is not found in either parent, then the risk for a sibling to be affected is low. 
Last updated: 12/3/2015
- Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/.