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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary elliptocytosis


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Overview

Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.[1]
Last updated: 5/20/2011

References

  1. Hereditary elliptocytosis. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000563.htm. Accessed 5/20/2011.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Hereditary Elliptocytosis
    Pediatric Hereditary Elliptocytosis and Related Disorders
  • 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.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.