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Diseases

Genetic and Rare Diseases Information Center (GARD)

Diamond-Blackfan anemia


Other Names for this Disease
  • DBA
  • Anemia Diamond Blackfan type
  • Blackfan Diamond syndrome
  • BDS
  • Anemia congenital erythroid hypoplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. It is usually diagnosed during the first year of life.[1] 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] Diamond-Blackfan anemia is caused by a mutation in a number of different gene(s), some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19, RPL5,  RPS10, RPL11, RPL35A, RPS7, RPS17, RPS24,  RPS26 and GATA1 genes. Different subtypes exist and are divided based on the specific gene mutated; however, they have similar features. Patients with mutations in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with mutations in the RPL11 gene have thumb anomalies more frequently than people with the other types. Mutations in the GATA1 gene are associated with severe anemia.[3][4] About 45% of people with Diamond-Blackfan anemia inherit this condition from a parent. Inheritance is typically autosomal dominant , but can rarely be X-linked.[3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.[1]    
Last updated: 2/17/2016

References

  1. Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2015; http://www.cdc.gov/ncbddd/dba/facts.html. Accessed 12/4/2015.
  2. Diamond-Blackfan anemia. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia. Accessed 12/3/2015.
  3. Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/.
  4. Diamond-Blackfan Anemia. Online Mendelian Inheritance in Man (OMIM). December 5, 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650. Accessed 10/15/2008.
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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.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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

Other Names for this Disease
  • DBA
  • Anemia Diamond Blackfan type
  • Blackfan Diamond syndrome
  • BDS
  • Anemia congenital erythroid hypoplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.