Factor XI Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Factor XI Deficiency is not the name you expected.
Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI. Factor XI is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood solidifies like glue to plug the site of a wound to stop bleeding. Individuals with factor XI deficiency do not bleed faster or more profusely than healthy individuals, but, because their blood clots poorly, they may have difficulty stopping the flow of blood from a deep or surgical wound. This may be referred to as prolonged bleeding or a prolonged bleeding episode. The severity of factor XI deficiency can vary from one person to another. In many cases, prolonged bleeding episodes only occur after surgery, dental procedures or trauma. Bleeding tendencies in factor XI deficiency are unpredictable and inconsistent, making the disorder difficult to manage in some cases. Factor XI deficiency is caused by disruptions or changes (mutations) to the F11 gene. Factor XI deficiency is inherited autosomally and can occur in people of either sex.
Factor XI deficiency was first described in the medical literature in 1953. It used to be also referred to as hemophilia C in order to distinguish it from the better known hemophilia types A and B. In rare cases, factor XI deficiency can be acquired during life (acquired factor XI deficiency). This report deals with the genetic form. Although the genetic form is present at birth, as it is a mild bleeding disorder symptoms do not usually occur until later in life.
Canadian Hemophilia Society
- 301-666 Sherbrooke Street West
- Montreal, QC H3A 1E7
- Tel: 5148480503
- Fax: 5148489661
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Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hemophilia Federation of America
- 210 7th St. SE
- Suite 200B
- Washington, DC 20003
- Tel: (202)675-6984
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NIH/National Heart, Lung and Blood Institute
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National Hemophilia Foundation
- 116 West 32nd Street, 11th Floor
- New York, NY 10001
- Tel: (212)328-3700
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- Website: http://www.hemophilia.org
World Federation of Hemophilia
- 1425, boul. René-Lévesque O.
- Bureau 1010
- Montréal, Québec, H3G 1T7
- Tel: +1 (514) 875-7944
- Fax: +1 (514) 875-8916
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 8/28/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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