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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital dyserythropoietic anemia


Other Names for this Disease
  • Dyserythropoietic anemia, congenital
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Overview

Congenital dyserythropoietic anemia is a hereditary condition that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. The signs and symptoms include fatigue, weakness, pale skin, larger-than-normal liver and spleen, and problems of the heart.

There are four major types of the condition. Each type has a different cause and the additional signs and symptoms mentioned below.
  • Type 1: Diabetes and problems in the bones of the fingers and is caused by changes (mutations) in the CDAN1 gene
  • Type 2: Gallbladder stones and milder form of anemia and is caused by mutations in the SEC23B gene 
  • Type 3: The most severe form of the types. The liver is unaffected, but eye and blood problems (monoclonal gammopathy) are present. The exact cause of this type is currently unknown. 
  • Type 4: Very severe anemia and is caused by mutations in the KLF1 gene. 
Types 1 and 2 are inherited in an autosomal recessive manner. Type 3 appears to be inherited in an autosomal dominant manner. Type 4 is inherited in an autosomal dominant manner. Treatment may involve the use of a medication called interferon, and a bone marrow transplant. In some cases, the spleen may be removed (splenectomy).[1]
Last updated: 12/16/2015

References

  1. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia. Accessed 12/10/2015.
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Basic Information

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

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • Dyserythropoietic anemia, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.