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Genetic and Rare Diseases Information Center (GARD)

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Congenital dyserythropoietic anemia type 1


Other Names for this Disease
  • Anemia, dyserythropoietic, congenital type 1
  • CDA I
  • Dyserythropoietic anemia, congenital type 1
  • Type I congenital dyserythropoietic anemia
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Overview


Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from mutations in the CDAN1 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 5/23/2012

References

  1. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 5/23/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 1. This website is maintained by the National Library of Medicine.

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 Congenital dyserythropoietic anemia type 1. Click on the link to view a sample search on this topic.