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Because prothrombin is also known as factor II, the mutation is also sometimes referred to as the factor II mutation or simply the prothrombin mutation; in either case, the names may appear with or without the accompanying G20210A location specifier (unhelpfully, since prothrombin mutations other than G20210A are known).
There are two types of prothrombin deficiencies that occur depending on the mutation: [5] Type I (true deficiency), includes a missense or nonsense mutation, essentially decreasing prothrombin production. This is associated with bleeding from birth. Here, plasma levels of prothrombin are typically less than 10% of normal levels. [citation needed]
Hyperprothrombinemia is a state of high of prothrombin levels in the blood [1] which leads to hypercoagulability. An example of a genetic cause includes the mutation prothrombin G20210A. [2] Hyperprothrombinemia is a risk factor for venous thromboembolism. [2]
Anchoring of bovine prothrombin to the membrane through its Gla domain. [16] The molecular weight of prothrombin is approximately 72,000 Da. The catalytic domain is released from prothrombin fragment 1.2 to create the active enzyme thrombin, which has a molecular weight of 36,000 Da. Structurally, it is a member of the large PA clan of proteases.
The fully assembled prothrombinase complex catalyzes the conversion of the zymogen prothrombin to the serine protease thrombin. Specifically, Factor Xa cleaves prothrombin in two locations, following Arg 271 and Arg 320 in human prothrombin. [1] Because there are two cleavage events, prothrombin activation can proceed by two pathways.
Recurrent miscarriage is an indication for thrombophilia screening, particularly antiphospholipid antibodies (anti-cardiolipin IgG and IgM, as well as lupus anticoagulant), factor V Leiden and prothrombin mutation, activated protein C resistance and a general assessment of coagulation through an investigation known as thromboelastography.
This will include testing ("thrombophilia screen") for Factor V Leiden mutation, antiphospholipid antibodies, protein C and S and antithrombin levels, and later prothrombin mutation, MTHFR mutation, Factor VIII concentration and rarer inherited coagulation abnormalities.
Typical is a discordance between the prolonged prothrombin time (PT) and normal levels for the activated partial thromboplastin time (APTT). [1] FVII levels are <10IU/dl in homozygous individuals, and between 20-60 in heterozygous carriers. [2] The FCVII: C assay supports the diagnosis. [1] The FVII gene (F7) is found on chromosome 13q34. [1]