Factor XIII deficiency
Other Names for this Disease
- Congenital Factor XIII deficiency
- Fibrin stabilizing factor deficiency
- Fibrin-stabilizing factor deficiency
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 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.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.
Last updated: 8/16/2011
- 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.
- 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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- Online Mendelian Inheritance in Man (OMIM) is a 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.
Factor XIIIA deficiency
Factor XIIIB deficiency
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