What is G20210A mutation?
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).
How common is prothrombin 20210 mutation?
A change in the prothrombin gene is present in 2-4% (or 1 in 50 to 1 in 25) of Caucasians, and is more common in individuals of European ancestry. In the United States, approximately 0.4% (about 1 in 250) of African Americans also have the mutation. Prothrombin G20210A mutation is rare in other groups.
What is a prothrombin gene mutation?
The Prothrombin Gene Mutation is a change in the gene that controls a blood clotting protein that circulates in the blood called prothrombin. This particular gene change leads to an increase in the level of this protein in the blood.
What chromosome is factor V Leiden on?
Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans….Pathophysiology.
| SNP: Factor V Leiden | |
|---|---|
| Name(s) | Factor V Leiden, Arg506Gln, R506Q, G1691A |
| Gene | Factor V |
| Chromosome | 1 |
| External databases |
Is Factor 2 a bleeding disorder?
Clotting factor II, or prothrombin, is a vitamin K–dependent proenzyme that functions in the blood coagulation cascade. Factor II deficiency is a rare, inherited or acquired bleeding disorder with an estimated incidence of one case per 2 million population.
How many people have Factor 2 mutations?
The mutation is uncommon in African Americans (approximately 0.5%) and is rare in Asians, Africans, and Native Americans. The homozygous form is considered uncommon, with an expected occurrence of approximately 1 in 10 000 individuals. The prothrombin 20210 mutation is equally as common in men and in women.
Are blood clotting disorders hereditary?
Inherited causes of blood clots are related to a genetic tendency for clot formation. People with inherited conditions tend to develop blood clots before 45 years of age. For these individuals, their blood clots may occur without a cause, and they are likely to have more than one blood clot in their lifetime.
Is Factor V Leiden a chronic condition?
Factor V Leiden is a blood clotting disorder. It is not a disease. Factor V is a protein that is needed for blood to clot properly.
Which conditions are associated with clotting disorders?
Major causes of coagulation disorders resulting in bleeding include:
- Hemophilia.
- Von Willebrand disease.
- Other clotting factor deficiencies.
- Disseminated intravascular coagulation.
- Liver Disease.
- Overdevelopment of circulating anticoagulants.
- Vitamin K deficiency.
- Platelet dysfunction.