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The invisible enemy in your blood: How does this mutation put you at risk for deep vein thrombosis?
Throughout our lives, blood clotting is a natural process that protects us from trauma, but in some cases, this process can become a potential threat. One of the invisible enemies is a genetic mutation called "thrombin gene G20210A mutation." This variant causes blood clotting to occur more quickly in some people, increasing the risk of deep vein thrombosis and pulmonary embolism.
A comprehensive analysis shows that this mutation increases the annual risk of blood clots in carriers from 1 in 1,000 to 2.5 in 1,000. If a carrier has two copies of the mutation, the risk is even 20 in 1,000.
The discovery of the G20210A mutation in the thrombin gene dates back to the 1990s. About 2% of the Caucasian population carries this mutation, while it is less common in other ethnic groups. The origin of this mutation dates back approximately 24,000 years, showing its genetic flow within the Caucasian population.
Symptoms and Dangers
This mutation causes elevated levels of thrombin (prothrombin) in autologous plasma, a state called hyperprothrombinemia. Thrombin is a key component that promotes blood clotting, which means people with this mutation are more likely to develop blood clots, but it does not generally affect the incidence of arterial clots. A 2006 comprehensive study showed that this mutation increased the risk of coronary artery disease by only about 1.3-fold.
In addition to the G20210A mutation, protein C and protein S deficiencies further increase the risk of blood clots five to tenfold. Therefore, G20210A is one of the most common genetic risk factors driving venous thrombosis.
For those who carry this variant, special caution is needed whether they are pregnant, recovering from surgery, or flying for long periods of time. Most people do not need treatment, but in some cases, anticoagulant medications may be necessary. For example, a 2005 study noted that women who carry this variant have a 15-fold increased risk of venous thromboembolism if they use oral contraceptives, and those who co-carry the Factor V Leiden mutation have a risk of nearly 20 times.
Diagnosis and identification
Diagnosing the G20210A mutation is relatively straightforward because it involves a point mutation in a single gene and can be detected by genetic testing. This test is not affected by current medical conditions or anticoagulation therapy. It was then noted that elevated thrombin levels cannot be used as a method of screening for this mutation because of an overlap in the range of values between normal and affected individuals.
Treatment Plan
For patients with this mutation, treatment is generally similar to other types of thrombosis. Generally, anticoagulation therapy lasts anywhere from three to six months, but may be longer depending on the presence of the blood clot. The choice of anticoagulant to use (such as warfarin or the newer oral anticoagulants) takes into account a variety of factors, including the severity of the blood clot, patient preference, and possible drug and dietary interactions.
However, routine anticoagulation treatment is not recommended for G20210A mutation carriers who have not experienced thrombotic events. Instead, guidance and advice should be provided to patients in high-risk situations, such as during pregnancy, surgery, and acute illness, to avoid oral contraceptive use to reduce the risk of blood clots.
Summary
This invisible enemy, while not causing problems in many situations, can be a potentially fatal threat to some people. Can understanding the G20210A mutation and its impact allow us to make smarter life choices?
