Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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
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

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Congenital dyserythropoietic anemia type 1 have been answered. See questions and answers. You can also submit a new question.

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. 
    Congenital dyserythropoietic anemia type Ia
    Congenital dyserythropoietic anemia type Ib
  • 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.
Other Names for this Disease
  • Anemia, dyserythropoietic, congenital type 1
  • CDA I
  • Dyserythropoietic anemia, congenital type 1
  • Type I congenital dyserythropoietic anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.