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SI001216K. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C. The gene that codes the protein is referred to as F5.
Factor V. Coagulation factor V ( Factor V ), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor. [5] Factor V deficiency leads to predisposition for ...
Haemophilia. Haemophilia ( British English ), or hemophilia ( American English) [6] (from Ancient Greek αἷμα (haîma) 'blood', and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. [2] [3] This results in people bleeding for a ...
Thrombophilia. An ultrasound image demonstrating a blood clot in the left common femoral vein. Thrombophilia (sometimes called hypercoagulability or a prothrombotic state) is an abnormality of blood coagulation that increases the risk of thrombosis (blood clots in blood vessels). [1] [2] Such abnormalities can be identified in 50% of people who ...
Deep vein thrombosis ( DVT) is a type of venous thrombosis involving the formation of a blood clot in a deep vein, most commonly in the legs or pelvis. [9] [a] A minority of DVTs occur in the arms. [11] Symptoms can include pain, swelling, redness, and enlarged veins in the affected area, but some DVTs have no symptoms.
Quebec platelet disorder ( QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec, Canada. [1] [2] The disorder is characterized by large amounts of the fibrinolytic enzyme urokinase -type plasminogen activator (uPA) in platelets. [3] This causes accelerated fibrinolysis ( blood clot ...
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