Factor VII Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Factor VII Deficiency is not the name you expected.
Factor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII. Clotting factors are specialized proteins that are essential for the blood to clot normally. Individuals with factor VII deficiency can experience prolonged, uncontrolled bleeding episodes. The severity of factor VII deficiency can vary greatly from one person to another. Some individuals may have no symptoms (asymptomatic); others may develop mild, moderate or potentially severe, life-threatening complications as early as in infancy. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder.
Factor VII deficiency was first described in the medical literature by Dr. Alexander, et al. in 1951 and was referred to as prothrombin conversion accelerator deficiency. The disorder has also been known as Alexander's disease. In extremely rare instances, factor VII deficiency can be acquired during life; this report deals with the genetic form, which is present at birth (although symptoms may develop later).
Canadian Hemophilia Society
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Children's Cancer & Blood Foundation
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Genetic and Rare Diseases (GARD) Information Center
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Hemophilia Federation of America
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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".
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Last Updated: 4/24/2015
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