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Factor II G20210A is a mutation of guanine (G) to adenine (A) at position 20210 of the Factor II gene which encodes the prothrombin (factor II) protein, one of the clotting factors in blood.
Normally, the prothrombin protein is produced to help the blood clot, and is produced in greater amounts after a blood vessel is damaged. This mutation in the factor II gene results in overproduction of the prothrombin protein. The increased prothrombin protein level leads to a hypercoagulable state, i.e., an increased tendency to form blood clots.
This G20210A mutation in the factor II gene is the second most common inherited hypercoagulability (prone to clotting) disorder among ethnic Europeans. The mutation was identified in Leiden in 1996.
Factor V Leiden (Factor V G1691A) is a mutation of guanine (G) to adenine (A) at position 1691 in the Factor V gene which encodes the factor V protein, one of the clotting factors in blood.
This mutation results in an arginine to glutamine substitution in the Factor V protein. The conformation of the mutated protein interferes with binding by another protein that inhibits the pro-clotting activity of factor V, leading to a hypercoagulable state, i.e., an increased tendency to form abnormal and potentially harmful blood clots.
Factor V Leiden is the most common inherited hypercoagulability (prone to clotting) disorder among ethnic Europeans. It is named after the Dutch city Leiden, where it was first identified in 1994.
The prevalence of Factor II Prothrombin mutation in European Caucasians was found to be 3-15% in patients with clotting disorders and 1-8% in healthy controls.1 That was also true in Caucasians living outside Europe like in the USA, Australia, Brazil and Israel. The prevalence of Prothrombin G20210A mutation is higher in the Southern European countries than in the Northern countries.
Factor V Leiden is the most common genetic form of inherited thrombophilia, accounting for 30–50% of cases.1 The prevalence varies by population. Heterozygosity for Factor V Leiden occurs in 3–8% of the general US and European populations. Homozygosity occurs in < 0.1%.2
The cobas® Factor II and Factor V Test is an in vitro diagnostic device that uses real-time Polymerase Chain Reaction (PCR) for the detection and genotyping of the human Factor II (Prothrombin) G20210A mutation and the human Factor V Leiden G1691A mutation, from genomic DNA obtained from K2EDTA whole blood specimens, as an aid in diagnosis of patients with suspected thrombophilia. The cobas® Factor II and Factor V Test and the cobas z 480 analyzer are used together for automated amplification and detection.
Inherited Thrombophilia: Genetics, Prevalence, Testing Guidelines
- Kujovich JL. Factor V Leiden thrombophilia. Genet Med. 2011;13(1):1-16.
- Varga EA, Kujovich JL. Management of inherited thrombophilia: guide for genetics professionals. Clin Genet. 2012;81(1):7-17.
- Dziadosz M, Baxi LV. Global prevalence of prothrombin gene mutation G20210A and implications in women’s health: a systematic review. Blood Coagul Fibrinolysis. 2016;27(5):481-489.