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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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Diamond Blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life.[1] Anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. Individuals with Diamond Blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature.[2]  The cause of Diamond Blackfan anemia is often unknown. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. [3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.[1]    
Last updated: 2/1/2011


  1. Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2011; Accessed 2/1/2011.
  2. Diamond Blackfan Anemia: The Disease. Diamond Blackfan Anemia Foundation, Inc.. 2008; Accessed 2/1/2011.
  3. Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. 2011; Accessed 2/1/2011.
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Basic Information

  • The Children's Hospital Boston provides an information page on Diamond Blackfan Anemia. Click on the link above to access this information.
  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Diamond-Blackfan anemia. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Diamond-Blackfan anemia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles