Factor XII Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Factor XII Deficiency is not the name you expected.
Factor XII deficiency is a rare genetic blood disorder that causes prolonged clotting (coagulation) of blood in a test tube without the presence of prolonged clinical bleeding tendencies. It is caused by a deficiency of the factor XII (Hageman factor), a plasma protein (glycoprotein). Specifically, factor XII is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Although it is thought that factor XII is needed for proper blood clotting, when it is deficient, other blood clotting factors appear to compensate for its absence. Therefore, the disorder is thought to be benign and usually presents no symptoms (asymptomatic); it is usually only accidentally discovered through pre-operative blood tests that are required by hospitals.
Factor XII deficiency was first described in the medical literature in 1955 by doctors Oscar Ratnoff and Jane Colopy in a patient named John Hageman. The disorder is sometimes known as Hageman factor deficiency or Hageman trait.
Canadian Hemophilia Society
- 301-666 Sherbrooke Street West
- Montreal, QC H3A 1E7
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Genetic and Rare Diseases (GARD) Information Center
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Hemophilia Federation of America
- 210 7th St. SE
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Irish Haemophilia Society
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NIH/National Heart, Lung and Blood Institute
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National Hemophilia Foundation
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World Federation of Hemophilia
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For a Complete Report
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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 5/25/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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