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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.
The thereby activated factor V (now called FVa) is a cofactor of the prothrombinase complex: The activated factor X (FXa) enzyme requires calcium and activated factor V (FVa) to convert prothrombin to thrombin on the cell surface membrane. Factor Va is degraded by activated protein C, one of the principal physiological inhibitors of coagulation.
6947. Iron-deficiency anemia (or iron deficiency anaemia) is a common anemia that occurs when iron loss (often from intestinal bleeding or menses) occurs, and/or the dietary intake or absorption of iron is insufficient. In such a state, hemoglobin, which contains iron, cannot be formed. [5] Plummer–Vinson syndrome.
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 ...
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 ...
Von Willebrand disease ( VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. [1] It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion.
Antiphospholipid syndrome, or antiphospholipid antibody syndrome ( APS or APLS ), is an autoimmune, hypercoagulable state caused by antiphospholipid antibodies. APS can lead to blood clots ( thrombosis) in both arteries and veins, pregnancy-related complications, and other symptoms like low platelets, kidney disease, heart disease, and rash.
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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