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Prothrombin gene mutation (or Factor II mutation or Prothrombin G20210A) is an inherited condition that increases your predisposition to develop abnormal blood clots in the veins (deep vein thrombosis or DVT) and lungs (pulmonary embolism or PE).
INTRODUCTION. Prothrombin G20210A is the second most common inherited thrombophilia after factor V Leiden. Challenging clinical issues include the decisions regarding when to test for prothrombin G20210A and how to manage individuals with this variant, either in the setting of venous thromboembolism (VTE) or in asymptomatic individuals.
It is due to a specific gene mutation in which a guanine (G) is changed to an adenine (A) at position 20210 of the DNA of the prothrombin gene. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. [2]
Having too much prothrombin makes the blood more likely to clot. People with this condition are said to have a prothrombin mutation, also called the prothrombin variant, prothrombin G20210A, or a factor II mutation.
The prothrombin gene mutation G20210A results from a change in a single nucleotide (a DNA building block). It causes your cells to produce too much prothrombin, which can lead to excessive...
Prothrombin (factor II) is a vitamin K–dependent precursor of thrombin, the terminal enzyme of the coagulation cascade (see figure Pathways in Blood Coagulation). A single nucleotide mutation in one (or, less commonly, both) of the prothrombin genes at position 20210 results in increased plasma prothrombin levels (with potentially increased ...
Prothrombin 20210 Mutation, also called Factor II Mutation is a genetic condition that causes an increase in the likelihood of your blood forming dangerous blood clots. All individuals make the prothrombin (also called factor two) protein that helps blood clot.
The diagnosis of prothrombin thrombophilia is established in a proband by identification of a heterozygous or homozygous 20210G>A variant (also known as c.*97G>A) in F2, the gene encoding prothrombin. Management. Treatment of manifestations: Management depends on the clinical circumstances.
The phenotypic manifestation of the prothrombin G20210A mutation can be considered as two interrelated phenomena: a thrombosis-preceding suprathreshold increase in the activity of prothrombin (Factor II) and thrombosis itself.
A single nucleotide mutation in one (or, less commonly, both) of the prothrombin genes at position 20210 results in increased plasma prothrombin levels (with potentially increased thrombin generation) and increases the risk of venous thromboembolism (VTE).