Thrombophilia Factors, 6 Mutations (F2, F5, MTHFR 677, MTHFR 1298, F13, and PAI-1)

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Human genetics

Thrombophilia is a blood coagulation disorder that increases the risk of forming blood clots in blood vessels. It can be caused by both genetic factors (30-50%) and environmental factors. Identifying genes associated with thrombophilia helps in the early detection of patients at increased risk for thrombosis, allowing for timely preventive and/or therapeutic measures. The thrombophilia factors analysis, one of the services provided by IntroLab Laboratory in Belgrade, has shown significant clinical importance for women with fertility complications. However, it is equally important for men who have experienced pulmonary embolism, heart attack, stroke, or venous thrombosis at a younger age, specifically before the age of 50.

IntroLab Laboratory Staff
The IntroLab team conducts thrombophilia factors analysis with a high level of expertise.

Detailed Thrombophilia Analysis

Thrombophilia refers to an individual’s tendency to form abnormal blood clots (thrombi). These clots can develop in veins (deep vein thrombosis) or arteries, potentially causing serious health issues, including heart attacks and strokes. Testing for this disorder is especially important for women who are planning to conceive or are already pregnant, as it can significantly impact the success of conception and the outcome of the pregnancy. Thrombophilia can be hereditary or acquired, and sometimes a combination of both, which can make the clinical picture much more serious.

What is acquired thrombophilia?

Acquired thrombophilia is a condition that increase the risk of blood clot formation. Unlike genetic thrombophilia, they develop as a result of certain diseases, medical conditions, or other circumstances that affect normal blood flow and impact coagulation factors.

Some examples of acquired thrombophilia include:

  • Antiphospholipid Syndrome (APS): This is an autoimmune condition in which the body produces antibodies that attack phospholipids, which are complex fats important for normal blood coagulation. APS increases the risk of blood clots, which can affect veins, causing deep vein thrombosis, or arteries.
  • Malignant Diseases: Individuals with malignant diseases also have an increased risk of forming clots. This risk may be associated with the presence of tumors, chemotherapy, radiation, or surgical procedures.
  • Prolonged Immobility: Prolonged immobility due to injury, surgery, or long-term bed rest increases the risk of clot formation.
  • Smoking and Oral Contraceptives: Smoking and the use of oral contraceptives, especially in combination with other risk factors (particularly F2 and F5 mutations), increase the risk of thrombosis.
  • Hyperhomocysteinemia: An increased level of the amino acid homocysteine in the blood can increase the risk of thrombosis. Hyperhomocysteinemia can be caused by genetic factors (mutations in the MTHFR, MTR, and MTRR genes). Additionally, it can be caused by a deficiency of certain vitamins such as B6, B12, and folate.

How does hereditary thrombophilia differ from acquired thrombophilia?

While acquired thrombophilia is caused by environmental factors, hereditary thrombophilia is linked to genetics. Specifically, changes in certain genes that encode proteins involved in hemostasis (the process of stopping bleeding) can lead to an increased risk of abnormal coagulation. These conditions are very important for successful reproduction.

Pregnancy is a period during which numerous changes occur in the body to support fetal development and prepare the woman for childbirth. However, some of these changes also increase the risk of certain coagulation-related conditions.

Below are some important aspects of the relationship between pregnancy and coagulation, highlighting why it is important to examine hereditary factors for thrombophilia.

Increased Coagulation

During pregnancy, the activity of coagulation factors increases. At the same time, the activity of anticoagulation factors decreases, resulting in increased blood clotting. This is a normal physiological response that helps prevent excessive bleeding during childbirth. It is also very important in the early days after conception to prevent bleeding and loss of the fetus.

Increased Risk of Thrombosis

Given the increased coagulation, pregnant women are more susceptible to developing blood clots, especially deep vein thrombosis (DVT). This is particularly true if the woman has additional risk factors, such as a predisposition to thrombophilia, obesity, smoking, or the presence of certain medical conditions.

Complications Related to Coagulation

The increased risk of blood clot formation can lead to certain complications. One of the most common is preeclampsia, a condition characterized by high blood pressure and elevated protein levels in the urine. Preeclampsia can endanger the health of both the mother and the baby, requiring careful monitoring and treatment. Additionally, due to increased coagulation, tiny clots can form in the reproductive organs. These clots can interfere with embryo implantation (especially important during in vitro fertilization) and can also cause spontaneous miscarriage and other complications in fetal development.

It’s important to note that not all pregnant women at an increased risk of developing blood clots will encounter problems. However, those with specific risk factors may need special medical supervision and care. An individualized prevention or treatment plan should be developed in collaboration with a specialized medical team, including a gynecologist, hematologist, and geneticist. The goal is to ensure a safe pregnancy and successful reproductive outcomes. Therefore, it is crucial to analyze thrombophilia factors.

A geneticist analyzing the sample using a microscope conducting Thrombophilia Factors analysis
Certain factors influence the development of thrombophilia, making this analysis essential.

Thrombophilia Factors Requiring Special Attention

There are many genetic factors for thrombophilia. However, a few stand out due to extensive medical research and their clinical significance for testing. These include:

  • Factor V Leiden Mutation: Individuals with this mutation have an increased risk of developing blood clots. The mutated factor V cannot be adequately regulated by protein C. A single nucleotide change at position 1691 of this gene makes it resistant to activated protein C, which should prevent excessive coagulation. Therefore, a person carrying this mutation has a significantly increased risk of thrombosis.
  • Prothrombin Gene Mutation (Factor II Mutation): This mutation increases the risk of excessive production of prothrombin, a protein involved in the blood clotting process.
  • Protein C, Protein S, and Antithrombin Deficiencies: These proteins regulate blood clotting. Their deficiency due to inherited factors can increase the risk of developing blood clots.
  • Mutations in Genes Important for Folate Metabolism (MTHFR, MTR, and MTRR): These mutations can lead to the accumulation of homocysteine and an increased risk of thrombosis. They can also affect the neurological development of the fetus due to altered folate metabolism.
  • 4G/5G Mutation in the PAI-1 Gene: This mutation is crucial for proper fibrinolysis (the process of preventing thrombosis) and, in its altered form, can lead to increased coagulation and complications during pregnancy.

Indications for Thrombophilia Factor Analysis

Do you think you belong to a “risk group,” but aren’t sure if there are indications for testing for thrombophilia factors? Here are some of the most common reasons for this type of blood analysis:

  • Fetal loss
  • Fetal pathologies
  • Trauma
  • Surgeries
  • Heart attack or stroke
  • Pulmonary embolism
  • Venous thromboembolism
  • Positive family history of these conditions

Which Thrombophilia Factors Are Analyzed by IntroLab Laboratory in Belgrade?

The goal of the PCR analysis available at the private laboratory IntroLab in Belgrade is to diagnose this pathological condition. It focuses on the mentioned risk factors and identifies the presence of six gene mutations:

  • F2 20210 G>A
  • F5 1691 A>G
  • F13 Val34Leu
  • PAI-1 -675 4G>5G
  • MTHFR 677 C>T
  • MTHFR 1298 A>C
Inside IntroLab Laboratory Belgrade
IntroLab Laboratory analyzes the most common gene mutations that contribute to the development of thrombophilia.

Treatment of Thrombophilia

Treatment generally involves an individualized approach, depending on the type of thrombophilia, personal and family medical history, and the presence of other risk factors. Most commonly, thrombophilia treatment includes anticoagulant medications to prevent blood clots. This is especially important during pregnancy. A doctor will decide if these medications are necessary, carefully considering the condition of both the mother and the baby. Pregnant women prone to blood clots, as well as other individuals with thrombophilia, are typically under close medical supervision to monitor this condition.

Unlike some other genetic conditions that are not easily treated or controlled, detecting inherited thrombophilia allows for timely therapeutic measures. Although we cannot change our genes, fortunately, there are medications available today for therapeutic and preventive purposes. With their proper application, it is possible to compensate for certain deficiencies caused by our genes.

For additional information about thrombophilia factor analysis or advice on preparing for this type of testing, don’t hesitate to contact us! As part of this analysis, you will receive a comprehensive report from a geneticist, which will help you fully understand your health condition—regardless of your prior medical knowledge! The staff at IntroLab Laboratory in Belgrade, including an always-available biochemist and geneticist, is at your service at the well-known address: Južni Bulevar 116. Visit us today and check your health status!

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