Is your blood at risk of clotting? (Prothrombin Gene Mutation) Let's learn about it simply

Have you ever heard of someone suddenly having a swollen, painful leg and being told by a doctor that they have a blood clot in their leg? Or a young, healthy person suddenly having difficulty breathing and chest pain and being hospitalized? When we hear things like this, we may wonder what is going on. Most of the time, we see things like aging and obesity as the cause of this. However, sometimes the cause can be something like the color of our eyes, the texture of our hair, or a gene that we inherit from our parents. Today we are going to talk about such a genetic condition that increases the risk of blood clots. This is called Prothrombin Gene Mutation .

Simply put, what is this Prothrombin Gene Mutation?

This may sound like a scientific name, but the story is very simple. Let's first look at how blood clotting normally occurs in our body. When you get a small injury, a little blood flows and then stops after a while, right? That's because the blood clotting system in our body is activated. Many types of proteins help with this. We call these proteins Clotting Factors. Prothrombin is one such protein. Another name for this is Factor II . Normally, our body only makes the amount of Prothrombin it needs. However, in the body of a person with a genetic mutation called Prothrombin Gene Mutation, this protein called Prothrombin is produced in a much larger amount than required . Imagine, what would happen if someone added five or six spoons of sugar to a cup of tea instead of two spoons of sugar? Just like tea tastes too sweet, when prothrombin levels increase, our blood becomes a little more "sticky," or more prone to clotting. This increases the risk of blood clots forming in the veins, even without any injury. These blood clots form in the deep veins of the legs. We call this condition Deep Vein Thrombosis (DVT) . Sometimes, a piece of this blood clot can break off and block a vein in the lungs. This is a very dangerous condition, called Pulmonary Embolism (PE) .

How do we get this gene? What are homozygous and heterozygous?

This is very easy to understand. We get any gene as one copy from our mother and one copy from our father. Think about this gene that makes Prothrombin. 1. Heterozygous: You get this defective gene from your mother or father, that is, from only one of your parents. The other person gets the healthy, normal gene. Many people in Sri Lanka and around the world have this condition. In this case, the risk of blood clots is slightly higher than the average person. Roughly speaking, two or three out of 1,000 people with this condition have a risk of developing a blood clot. 2.Homozygous: This is a bit rare. What happens here is that you get the defective gene from both your mother and your father. This means that you get both copies of the defective gene from both parents . In this case, the risk of blood clots is several times higher than in those who are `Heterozygous`.

Will my children inherit this from me?

This is a problem that many parents have.

• If you have the homozygous condition (meaning both copies of the gene are defective), you will definitely pass on one defective gene to each of your children .
• If you are heterozygous (meaning you only have one defective gene), there is a 50% chance that one of your children will inherit that gene. It's like flipping a coin; you may or may not get it.

What are the symptoms of this condition?

Here's the most important thing. There are no symptoms that are specific to the genetic mutation called Prothrombin Gene Mutation. That is, even if you have this gene in your body, you will not feel any difference or difficulty. Many people do not even know that they have this gene, and they live their entire lives without any blood clots forming. So where is the problem? The problem comes only if a blood clot forms due to this gene. Then we see the symptoms related to that blood clot.

Are there other things besides genes that increase the risk of blood clots?

Yes, absolutely. We said that not everyone who has this gene will develop blood clots. However, when one or more of the following factors are present, the risk can increase. It's like pouring gasoline on a fire.

• Smoking: Smoking damages blood vessels and increases the risk of blood clots .
• Undergoing surgery: After major surgery, you may be confined to bed for several days, which can lead to decreased blood flow and clots.
• Obesity : As body weight increases, this risk increases as more pressure is placed on the veins.
• Pregnancy: During pregnancy, the risk of blood clots naturally increases due to hormonal changes in the body and the pressure on the veins caused by the growing baby.
• Taking birth control pills or hormone therapy: The risk may be increased by the estrogen hormone contained in some birth control pills and hormone therapy.
• Aging: The risk of blood clots naturally increases with age.
• Staying in the same position for too long:
• Being in bed in the hospital for many days.
• Wearing a cast when you break a leg.
• Traveling on a plane, bus, or car for many hours at a time.

How do I find out if I have this condition?

This cannot be detected with a regular blood test (like a full blood count). A specific genetic test is required for this. This is done by taking a blood sample. However, a doctor does not tell everyone to do this test. Usually, a doctor suspects this and orders a test in the following cases:

• If you have had more than one blood clot before.
• If you develop a blood clot when you are young, healthy, and have no other illnesses.
• If a close relative in your family (mother, father, siblings) has this type of blood clotting problem.

How is it treated?

Here we need to make two clear points. 1. Treatment for genetic mutations: According to current medical science, there is no way to treat or change our genes. This means that the Prothrombin Gene Mutation will be with you for the rest of your life. 2. Treatment for blood clots: However, we can control the risk of blood clots caused by this gene and treat a blood clot that has formed . If you have a DVT or PE, your doctor will often start treatment by giving you a type of medication that prevents blood clots (what we usually call blood thinners). In medical terms, these are called anticoagulants . In some emergency situations, drugs called thrombolytics are given by injection to dissolve and remove the blood clot. Very rarely, a catheter or surgery can be used to remove the blood clot. The duration of treatment varies from person to person. For some people, taking the medication for about three months is enough. Others may need to take blood-thinning medications for the rest of their lives. Your doctor will make that decision based on your condition and your risk factors.

How does this condition affect pregnancy?

This is an important issue for many women.

• If you have this Prothrombin Gene Mutation and have had a blood clot in the past , your doctor may recommend that you take a low-dose (preventive) daily blood thinner (such as heparin) throughout your pregnancy and for a few weeks after your baby is born. These types of injections are not harmful to your baby.
• However, even if you have this gene, if you have never had a blood clot in your life , you usually don't need any treatment during pregnancy.

When should you see a doctor?

This is very important. Recognizing the symptoms and taking action early can prevent serious conditions. Finally, don't panic if you find out you have the Prothrombin Gene Mutation. Remember, the majority of people with this gene can live a healthy life without any problems. The most important thing is to be aware of this, stay away from risk factors (such as smoking, obesity), live a healthy lifestyle, and seek medical advice immediately if you develop any symptoms of a blood clot. Prothrombin Gene Mutation, Factor II mutation, Blood clotting, Deep Vein Thrombosis, Pulmonary Embolism, DVT, PE, Genetic diseases, Blood thinners, Anticoagulants