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Genetic and Rare Diseases Information Center (GARD)

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Factor XIII deficiency


Other Names for this Disease
  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
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Overview


Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.[1] FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.[2]
Last updated: 8/16/2011

References

  1. Factor XIII Deficiency. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/66/viewAbstract. Accessed 8/16/2011.
  2. Congenital factor XIII deficiency. Orphanet. October 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331. Accessed 8/16/2011.
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Basic Information

In Depth Information

  • eMedicine has 2 articles on this topic from the perspective of adults and pediatrics. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the two types of Factor XIII deficiency.
    Factor XIIIA deficiency
    Factor XIIIB deficiency
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.