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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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Your Question

What 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

What is the chance that a sibling of someone with Diamond-Blackfan anemia will also have the condition?

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.  [1]
Last updated: 10/15/2010