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Hereditary spherocytosis


Other Names for this Disease

  • Congenital spherocytic hemolytic anemia
  • Congenital spherocytosis
  • Spherocytic 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

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen.[1] The condition is caused by mutations in any of several genes, including the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant pattern, but may also be inherited in an autosomal recessive pattern.[2] Different types of hereditary spherocytosis exist and are distinguished by their severity and genetic cause.[2]  Depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy.[1]
Last updated: 9/11/2012

References

  1. Dugdale DC, Mason JR. Congenital spherocytic anemia. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000530.htm. Accessed 5/3/2011.
  2. Hereditary spherocytosis. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Accessed 5/3/2011.
Your Questions Answered
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary spherocytosis. This website is maintained by the National Library of Medicine.
  • 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 National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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 Hereditary spherocytosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital spherocytic hemolytic anemia
  • Congenital spherocytosis
  • Spherocytic 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.