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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.
Alpha-2-plasmin inhibitor deficiency is caused by mutations in the SERPINF2 gene, which encodes the alpha-2-plasmin inhibitor (Alpha 2-antiplasmin) protein. [3]The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene, one from each parent, to develop the disorder.
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. It is known to affect several ...
The normal clotting process depends on the interplay of various proteins in the blood. Coagulopathy may be caused by reduced levels or absence of blood-clotting proteins, known as clotting factors or coagulation factors. Genetic disorders, such as hemophilia and Von Willebrand disease, can cause a reduction in clotting factors. [2]
[1] [2] These changes play an important role in physiological development and are important in providing appropriate diagnosis and treatment of bleeding and clotting disorders (e.g. thrombosis). [ 3 ] [ 4 ] The age-specific differences in the blood clotting system may contribute to the fact that children are less prone to developing thrombosis ...
This fibrinogen interferes with normal blood clotting and/or lysis of blood clots. The condition therefore may cause pathological bleeding and/or thrombosis . [ 2 ] [ 3 ] [ 4 ] Acquired dysfibrinogenemia is a non-hereditary disorder in which fibrinogen is dysfunctional due to the presence of liver disease , autoimmune disease , a plasma cell ...
The incorrectly glycosalated fibrinogen is dysfunctional and may cause pathological episodes of bleeding and/or blood clotting. [5] Congenital hypodysfibrinogenemia, an inherited disorder in which low levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause pathological episodes of bleeding or blood clotting. [6]
The National Heart, Lung, and Blood Institute (NHLBI) is the third largest Institute of the National Institutes of Health, located in Bethesda, Maryland, United States.It is tasked with allocating about $3.6 billion in FY 2020 [1] in tax revenue to advancing the understanding of the following issues: development and progression of disease, diagnosis of disease, treatment of disease, disease ...
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