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Congenital dyserythropoietic anemia type 2


Other Names for this Disease
  • Anemia, dyserythropoietic, congenital type 2
  • CDA II
  • CDAN2
  • Dyserythropoietic anemia, HEMPAS type
  • HEMPAS anemia
More Names
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Overview


Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. 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 II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.[1][2]
Last updated: 2/12/2014

References

  1. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 5/23/2012.
  2. Fernandez, M. Congenital dyserythropoietic anemia type II. Orphanet. September 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=98873. Accessed 2/12/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 2. 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 2. Click on the link to view a sample search on this topic.