What is factor 2 blood clotting disorder?

Factor II deficiency is a very rare blood clotting disorder. It results in excessive or prolonged bleeding after an injury or surgery. Factor II, also known as prothrombin, is a protein made in your liver. It plays an essential role in blood clot formation.

How serious is prothrombin gene mutation?

Having a prothrombin gene mutation means that you have a higher risk of developing a blood clot in your legs (called Deep Vein Thrombosis or DVT) and/or lungs (called Pulmonary Embolus or PE). About 1 in every 1000 people will develop a DVT or PE each year. The risk of developing a DVT or PE increases with age.

What is factor 2 prothrombin mutation?

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.

What is a factor 2 deficiency?

Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding.

How is factor II deficiency treated?

Treatment of factor II deficiency is aimed at restoring circulating factor II to levels sufficient for hemostasis. Levels greater than 30% of normal are usually adequate. Treatment measures include fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), and vitamin K.

What is G20210A mutation?

Prothrombin G20210A is a genetic condition that increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year.

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.

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 is factor 2 diagnosed?

Testing. Diagnosis is made with a prothrombin time (PT) test and an activated partial thromboplastin time (aPTT) test. Levels of prothrombin deficiency can range from 2% to 50% of normal. Patients with levels near or at 50% of normal have little to no bleeding problems.

What Is Factor II activity?

The factor II assay is a blood test to measure the activity of factor II. Factor II is also known as prothrombin. This is one of the proteins in the body that helps the blood clot.

Is Factor 2 dominant or recessive?

Many people with prothrombin-related thrombophilia never develop abnormal blood clots. This condition is caused by a particular genetic variant (written G20210A or 20210G>A) in the F2 gene and is inherited in an autosomal dominant pattern.

How is Factor 2 deficiency treated?

What happens if you have prothrombin G20210A mutation?

G to A translation at nucleotide 20210 in prothrombin gene leads to an increase in factor II (prothrombin) levels increasing the risk of venous thrombosis. The most common testing protocol to detect this mutation is PCR coupled with restriction-endonuclease digestion, gel electrophoresis, and RT-PCR [24].

Are there any additional indications for direct PT G20210A?

There may be additional indications for direct PT G20210A mutation testing, such as in determining the duration of anticoagulation therapy of VTE patients and screening for women contemplating hormone therapy.

How many patients are heterozygous for factor 2?

Methods: We have studied 38 patients, all heterozygous for the factor II mutation, selected through a population of 516 tested patients issued from our medical department from 1997 to 2002. The research was performed face with history of thrombotic or obstetrical events, angiopathy or familial screening.