what is prothrombin g20210a

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.

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How is prothrombin G20210A tested?

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. However, there are certain individuals who have a DNA mutation in the gene used to make prothrombin (also called …

What is the difference between factor V Leiden and prothrombin G20210A?

Prothrombin G20210A (PGM) is a polymorphism in the prothrombin (factor II) gene that is associated with an increased risk of VTE. The carrier frequency is approximately 1.5%–3% in Caucasians. Heterozygous individuals for the mutation …

What is the prothrombin 20210A gene 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).

What are the symptoms of prothrombin 20210 mutation (Factor II)?

 · Prothrombin G20210A Mutation, Blood. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered ...

How common is prothrombin G20210A?

Prevalence of prothrombin G20210A 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.

Why does prothrombin G20210A increase the risk of thrombosis?

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....Prothrombin G20210AFrequency2% (Caucasians)2 more rows

What do you do if you have a prothrombin mutation?

Is there any treatment for Prothrombin Gene Mutation? No treatment to change genes is currently available. Most people who have the Prothrombin Gene Mutation do not require any treatment but need to be careful at times when the risk of getting a blood clot may be increased (e.g. after surgery, during long flights etc).

How serious is prothrombin gene mutation?

Having the prothrombin mutation increases the risk of developing a DVT (a blood clot in the deep veins, typically the legs) and/or PE (blood clot that travels to the lungs). DVTs are dangerous because they can damage the veins, leading to pain and swelling, and sometimes to disability.

What does it mean when your prothrombin is high?

When the PT is high, it takes longer for the blood to clot (17 seconds, for example). This usually happens because the liver is not making the right amount of blood clotting proteins, so the clotting process takes longer. A high PT usually means that there is serious liver damage or cirrhosis.

What does it mean when your protime is high?

The average time range for blood to clot is about 10 to 13 seconds. A number higher than that range means it takes blood longer than usual to clot. A number lower than that range means blood clots more quickly than normal.

Is prothrombin gene mutation a blood disorder?

Prothrombin gene mutation is a blood clotting disorder, not a disease. It causes the body to make too much prothrombin, which makes the blood more likely to clot. Blood clots in your lungs or the deep veins of your legs can be dangerous.

Is prothrombin a bleeding disorder?

Prothrombin deficiency is a disorder caused by a lack of a protein in the blood called prothrombin. It leads to problems with blood clotting (coagulation). Prothrombin is also known as factor II (factor two). Blood clotting normally occurs when there is damage to a blood vessel.

Is prothrombin gene mutation genetic?

Individuals who have inherited two copies of the prothrombin gene mutation (homozygotes) or individuals who have inherited one copy of the prothrombin gene mutation and one copy of the factor V Leiden (compound heterozygotes) have a risk of DVT or PE similar to the risk of individuals who have inherited two copies of ...

Can you have a baby with prothrombin gene mutation?

The second most common genetic type is prothrombin thrombophilia, which mainly affects people of European ancestry. It involves a mutation in the F2 gene. Genetic types of thrombophilia may raise the risk of multiple miscarriages, but most women with these genetic mutations have normal pregnancies.

What is the gene mutation that causes blood clots?

Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. Most people with factor V Leiden never develop abnormal clots.

How is prothrombin thrombophilia inherited?

Prothrombin thrombophilia is inherited in an autosomal dominant manner: heterozygosity for the 20210G>A variant results in an increased risk for thrombosis; homozygosity for this variant confers a higher risk for thrombosis than heterozygosity.

What is R506Q mutation?

Factor V Leiden (F5) R506Q mutation is the most common cause of inherited thrombophilia and accounts for over 90 percent of activated protein C (APC) resistance. Individuals heterozygous for this mutation have an increased risk for venous thrombosis (approximately five- to tenfold).

What is factor II deficiency?

Hypoprothrombinemia; Factor II deficiency; Dysprothrombinemia. Prothrombin deficiency is a disorder caused by a lack of a protein in the blood called prothrombin. It leads to problems with blood clotting (coagulation). Prothrombin is also known as factor II (factor two).

Is protein C deficiency a blood disorder?

What is protein C deficiency? Protein C deficiency is a rare disorder that causes abnormal clotting of your blood. Protein C is one of many natural anticoagulants in blood that helps keep your clotting mechanism in check. An anticoagulant is a substance that prevents blood from clotting.

What is severe thrombophilia?

If you have thrombophilia, it means your blood can form clots too easily. Blood clots can be very serious and need to be treated quickly. Thrombophilia increases your risk of: deep vein thrombosis (DVT), a blood clot in a vein, usually the leg. pulmonary embolism (PE), a blocked blood vessel in your lungs.

How much prothrombin is in G20210A?

Prothrombin levels will be increased in individuals with prothrombin G20210A: 20% to 30% in heterozygotes and approximately 70% in homozygotes. However, measurement of prothrombin activity is not suggested because of overlap of prothrombin levels in individuals with and without mutations.

How to detect PT G20210A mutation?

The most common testing protocol to detect this mutation is PCR coupled with restriction-endonuclease digestion, gel electrophoresis, and RT-PCR [24]. Challenging clinical issues include the decisions regarding when to test for the mutation and how to manage individuals with the mutation, either in the setting of VTE or as an incidental finding. It has been used for patients with clinically suspected thrombophilia. 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.

What is the mutation that causes APCR?

APCR is usually, but not always, due to G1691A mutation in factor V (FVL). The mutation results in delayed inactivation of FVa and presumably extended time of thrombin production through the complex of FXa and FVa. The G20210A mutation in the 3′ untranslated region of the prothrombin gene results in increased concentrations of circulating prothrombin. Testing for APCR is covered in Chapter 152, and genetic testing for FVL, other FV mutations, and prothrombin G20210A is discussed in Chapter 153.

What mutations can cause increased thrombotic risk?

Increased activity of procoagulants may also shift the balance toward thrombosis. APCR, prothrombin G20210A mutation , and persistent elevation of FVIII are the most frequently encountered defects in this category. These defects cause increased thrombotic risk through diverse mechanisms but ultimately lead to increased thrombin generation at the site of clotting initiation.

What is the second most common polymorphism predisposing patients to VTE?

The second most common polymorphism predisposing patients to VTE is the prothrombin G20210A mutation. As the precursor to thrombin, prothrombin is a procoagulant zymogen essential for effective coagulation. Similar to Factor V Leiden, the prothrombin G20210A mutation predominantly affects Caucasians. Approximately 2–3% of the Caucasian population carries the prothrombin mutation, which is a single substitution of adenine for guanine at the G20210 position resulting in reduced prothrombin degradation and a subsequent increase in circulating plasma levels of prothrombin. This mutation confers a three-fold greater risk of developing VTE (Bauduer and Lacombe, 2005; Johnson et al., 2005 ).

What are the genetic tests for factor V Leiden?

Genetic tests are available for factor V Leiden and the prothrombin G20210A polymorphism.32 For deficiencies of protein C, protein S, and ATIII, the underlying defect may be attributable to several different mutations, and DNA testing is not practical. In general, in situations for which genetic tests are unavailable (or their results would be negative in the case of acquired deficiencies), functional or activity-based assays should be used. Ten percent of defects are in the functional aspect of the molecule and would be missed with antigen assays.32

What is factor 2 of G20210A?

19.2.3.2.1 Prothrombin allele G20210A. Factor II (prothrombin) G20210A is the third most common cause of cardiovascular disease (CVD) and the most common inherited coagulation disorder in the United States.

How many people in the US have a prothrombin mutation?

About one in every 50 white people in Europe and North America has the heterozygous prothrombin gene mutation, making it the second most common inherited clotting disorder. Factor V Leiden is the most common one. About one of every 250 blacks in America has the prothrombin gene mutation.

Do you have to have prothrombin mutations for life?

You’ll have the prothrombin gene mutation for life, since it’s part of your genetic makeup .

Do you need blood thinners during pregnancy?

But not everyone with the prothrombin gene mutation and a history of deep vein thrombosis or pulmonary embolism needs blood thinners during pregnancy. It depends on the specific details of the previous deep vein thrombosis or pulmonary embolism.

Does prothrombin cause pulmonary embolism?

Although the prothrombin gene mutation is the second most common inherited predisposition to a deep vein thrombosis or pulmonary embolism, it is the weakest of all inherited clotting disorders in terms of risk of causing abnormal blood clots. In addition, this mutation only increases the risk of vein clots (deep vein thrombosis or pulmonary embolism). It does not increase the risk of myocardial infarction (heart attacks) or arterial strokes.

Can you get a blood clot from a prothrombin mutation?

The prothrombin gene mutation can make you more likely to get harmful blood clots, but you may never get one. Medicines help treat and prevent blood clots in people who are high risk for them. You should know the warning signs of a problematic blood clot so you can identify it and get help.

Do you need a blood test for prothrombin?

You’ll need a specific blood test to check for the prothrombin gene mutation. Your provider may think you have a clotting problem if you:

Do you need blood thinners if you have a prothrombin mutation?

If you have the prothrombin gene mutation but never had a deep vein thrombosis or pulmonary embolism before, you will not need a blood thinner during or after pregnancy.

How to diagnose prothrombin G20210A mutation?

Diagnosis of the prothrombin G20210A mutation is straightforward because the mutation involves a single base change (point mutation) that can be detected by genetic testing, which is unaffected by intercurrent illness or anticoagulant use.

What is the mutation of prothrombin?

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).

How long does prothrombin stay in your system?

Patients with the prothrombin mutation are treated similarly to those with other types of thrombophilia, with anticoagulation for at least three to six months. Continuing anticoagulation beyond three to six months depends on the circumstances surrounding thrombosis, for example, if the patient experiences a thromboembolic event that was unprovoked, continuing anticoagulation would be recommended. The choice of anticoagulant (warfarin versus a direct oral anticoagulant) is based on a number of different factors (the severity of thrombosis, patient preference, adherence to therapy, and potential drug and dietary interactions).

What mutations increase the risk of clots?

Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden . Prothrombin G20210A was identified in the 1990s. About 2% of Caucasians carry the variant, while it is less common in other populations. It is estimated to have originated in Caucasians about 20,000 years ago.

Does G20210A cause hypercoagulation?

G20210A can thus contribute to a state of hypercoagulability, but not particularly with arterial thrombosis. A 2006 meta-analysis showed only a 1.3-fold increased risk for coronary disease. Deficiencies in the anticoagulants Protein C and Protein S further increase the risk five- to tenfold.

Can you test for G20210A mutation?

Measurement of an elevated plasma prothrombin level cannot be used to screen for the prothrombin G20210A mutation, because there is too great of an overlap between the upper limit of normal and levels in affected patients.

Can prothrombin be treated with anticoagulation?

Patients with the prothrombin G20210A mutation who have not had a thro mboembolic event are generally not treated with routine anticoagulation. However, counseling the patient is recommended in situations with increased thrombotic risk is recommended (pregnancy, surgery, and acute illness).

What are the symptoms of prothrombin 20210?

Signs of DVT include pain, swelling, and/or redness of the leg or arm; the area may also feel warm to the touch.

What is the mutation of prothrombin?

People with this condition are said to have a prothrombin mutation, also called the prothrombin variant, prothrombin G20210A, or a factor II mutation.

How to prevent blood clots?

Another way to possibly reduce risk is by refraining from (or quitting) smoking, as smoking increases the risk for blood clots. As described above, use of hormones is known to dramatically increase the risk of developing a blood clot. Individuals with the prothrombin mutation should discuss the risks associated with oral contraceptives (birth control) and hormone replacement therapies with their physician. They may choose contraceptive options that do not increase the risk for blood clots (barrier methods) or have less or no thrombotic risk (progestin-only contraceptives, minipill). Also, non-hormonal treatments without thrombotic risk are available to lessen postmenopausal symptoms or to treat osteoporosis. Long periods of immobility, including times of travel, also increase clotting tendency; therefore, it is important when traveling for 2 hours or more to take the opportunity to stop and walk around for a few minutes to keep blood circulating. When traveling by plane, you may also wish to perform exercises (including calf raises and frequent toe squeezes) and remain hydrated by drinking plenty of water and avoiding caffeine and alcoholic beverages. Wearing compression stockings (20 to 30 mm Hg compression at ankle) can also be considered. If you are sedentary at work, it is recommended that you take periodic breaks to stop and walk around.

How does a heterozygous prothrombin mutation affect DVT?

Having a heterozygous prothrombin mutation increases the risk of developing a first DVT by about 2 to 3 times the background (or 2 to 3 in 1000 people each year). Having homozygous prothrombin mutations increases the risk further, but it is not yet known how much the risk is increased.

How many prothrombin genes are there?

You inherit 2 copies of all of your genes from your parents; one from your mother and one from your father. Therefore, we all have 2 prothrombin genes. It is possible to have a mutation in only 1 of your prothrombin genes. If this is the case, it is said that you are heterozygous for the gene mutation; you inherited the mutation from either your mother or your father. It is rare to have a mutation in both copies of the prothrombin gene, ie, have inherited the mutation from both your mother and your father, but if you do, you are said to be homozygous.

What is the 20210 mutation?

Testing for the prothrombin 20210 mutation, also called factor II mutation, may have been offered by your doctor because you or someone in your family, has had (1) a blood clot in one of the deep veins of the body (also called deep vein thrombosis or DVT); (2) a blood clot that has traveled to the lung (called a pulmonary embolism or PE); (3) a blood clot in an unusual site (such as the mesenteric or cerebral sinus vein); (4) a heart attack or stroke at a young age; or (5) a history of recurrent pregnancy loss or stillbirth .

What is the protein that is needed to form fibrin?

What Is Prothrombin ? Prothrombin is a protein in the blood that is required for the blood to clot. It is also called factor II. Blood clots are composed of a combination of blood platelets and a meshwork of the blood clotting protein fibrin. Prothrombin is a blood clotting protein that is needed to form fibrin.

Overview

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. Most people never develop a blood clot in their lifetimes.
It is due to a specific gene mutation in which a guanine (G) is changed to an adenine(A) at positio…

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