Other Names for this Disease
- Anemia Diamond Blackfan type
- Blackfan Diamond syndrome
- Anemia congenital erythroid hypoplastic
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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 mutated 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.
Last updated: 2/17/2016
- Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/.