Factor VIII (FVIII) is an essential clotting factor. The lack of normal FVIII causes Hemophilia A, an inherited bleeding disorder. Hugo is a masculine name. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... Short and long arms Chromosome. ... The X chromosome is one of the two sex chromosomes in mammals (the other is the Y chromosome). ... Coagulation is the thickening or congealing of any liquid into solid clots. ... Haemophilia A (also spelt Hemophilia A or Hæmophilia A) is a blood clotting disorder caused by a mutation of the Factor VIII gene, leading to a deficiency in Factor VIII. It is the most common hemophilia. ...

Genetics

The gene for Factor VIII is located on the X chromosome (Xq28). The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome). ...

Physiology

FVIII is a glycoprotein procofactor synthesized and released into the bloodstream by the liver. In the circulating blood, it is mainly bound to von Willebrand factor (vWF, also known as Factor VIII-related antigen) to form a stable complex. Upon activation by thrombin or factor Xa, it dissociates from the complex to interact with Factor IXa the coagulation cascade. It is a cofactor to Factor IXa in the activation of Factor X, which, in turn, with its cofactor Factor Va, activates more thrombin. Thrombin cleaves fibrinogen into fibrin which polymerizes and crosslinks (using Factor XIII) into a blood clot. A glycoprotein is a macromolecule composed of a protein and a carbohydrate (an oligosaccharide). ... A cofactor is the following: In mathematics a cofactor is the minor of an element of a square matrix. ... The liver is an organ in some animals, including mammals (and therefore humans), birds, and reptiles. ... Von Willebrand factor is a blood glycoprotein of the coagulation system. ... Thrombin (activated Factor II) is a coagulation protein that has many effects in the coagulation cascade. ... Factor X, also known by the eponym Stuart-Prower factor or as thrombokinase, is an enzyme ( EC 3. ... Factor IX (or Christmas factor or Christmas-Eve factor) is one of the serine proteases (EC 3. ... The coagulation of blood is a complex process during which blood forms solid clots. ... Factor IX (or Christmas factor or Christmas-Eve factor) is one of the serine proteases (EC 3. ... Factor X, also known by the eponym Stuart-Prower factor or as thrombokinase, is an enzyme ( EC 3. ... Factor V is a protein of the coagulation system, rarely referred to as proaccelerin or labile factor. ... Fibrin is a protein involved in the clotting of blood. ... Fibrin is a protein involved in the clotting of blood. ... Polymer is a term used to describe large molecules consisting of repeating structural units, or monomers, connected by covalent chemical bonds. ... Factor XIII or fibrin stabilizing factor is an enzyme (EC 2. ...

No longer protected by vWF, activated FVIII is proteolytically inactivated in the process (most prominently by activated Protein C and Factor IXa) and quickly cleared from the blood stream. Proteolysis is the directed degradation (digestion) of proteins by cellular enzymes called proteases or by intramolecular digestion. ... Protein C is a major physiological anticoagulant. ... Factor IX (or Christmas factor or Christmas-Eve factor) is one of the serine proteases (EC 3. ...

Factor VIII is synthesized predominantly in the vascular endothelium and is not affected by liver disease. In fact, levels usually are elevated in such instances. (Rubin, Ronald N. Rubin. Hematologic Pathophysiology. Hayes Barton Press, 1998. 4.8.1). <vbk:1-889325-04-X#outline(4.8.1)>

Therapeutic use

FVIII concentrated from donated blood plasma (Aafact), or alternatively recombinant FVIII can be given to hemophiliacs to restore hemostasis. Thus, FVIII is also known as Anti-Hemophilic Factor. Aafact is a monoclonal purified factor VIII concentrate. ... Recombinant proteins are proteins that are produced by different genetically modified organisms following insertion of the relevant DNA into their genome. ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... Hemostasis refers to a process whereby bleeding is halted in most animals with a closed circulatory system. ...

The transfer of a plasma byproduct into the blood stream of a patient with hemophilia often led to the transmission of diseases such as HIV and hepatitis before purification methods were improved. In the early 1990s, pharmaceutical companies began to produce recombinant synthesized factor products, which now prevent nearly all forms of disease transmission during replacement therapy. Blood plasma is the liquid component of blood, in which the blood cells are suspended. ... Human immunodeficiency virus or HIV is a retrovirus that causes Acquired Immunodeficiency Syndrome (AIDS), a condition in which the immune system begins to fail, leading to life-threatening opportunistic infections. ... Hepatitis is a gastroenterological disease, featuring inflammation of the liver. ... Recombinant proteins are proteins that are produced by different genetically modified organisms following insertion of the relevant DNA into their genome. ...