PROTHROMBIN GENE MUTATION: AN OVERVIEW
Prothrombin Gene Mutation is also known as Factor II Mutation or Prothrombin G20210A. It is an inherited disease that causes the human body to produce more amounts of prothrombin. Prothrombin is a protein that is needed for the formation of a blood clot. The patient who suffers from this condition has an increased level of prothrombin in their body which contributes to the formation of blood clots.
The blood clots develop abnormally in the veins (DVT-Deep Vein Thrombosis) and lungs (PE-Pulmonary Embolism). Once blood clots start forming in the veins or arteries, they gradually create obstacles in the path of blood flow. It can cause serious problems and may lead to stroke or heart attack.
HOW CAN PROTHROMBIN GENE MUTATION OCCUR?
Biologically, we inherit 2 copies of genes from our parents- one from our mother and one from our father. The mutation can be heterozygous or homozygous. When one inherits the mutation from either your mother or your father, then this is the case of heterozygous (you have only one abnormal copy of the Factor II gene ). . It is uncommon to have a mutation in both copies of the prothrombin gene.
When one inherits the mutation from both your mother and your father, then this is the case of homozygous. ( (you have two abnormal copies of the Factor II gene) If you are homozygous, you will pass the mutation on to your children and if you are heterozygous, there’s a 50% chance that your children will get the mutation.
THE SYMPTOMS OF PROTHROMBIN GENE MUTATION
There are as such no visible symptoms of prothrombin gene mutation. Symptoms might be seen if you get diagnosed with DVT OR PE. The symptoms of Deep vein thrombosis and Pulmonary Embolism might include the following:
· Swelling in the legs or arms
· Pain in chest
· Change in skin color (purple, red)
· Difficulty in breathing
· Increased heartbeat
· Blood while coughing
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THE DIAGNOSIS OF PROTHROMBIN GENE MUTATION
Prothrombin Gene Mutation is diagnosed with the help of a blood test. The sample is sent to the laboratories for identifying the type of mutation – homozygous or heterozygous. The health care provider may think you have a clotting problem if you have had clots two or more different times in the past and your age and health conditions when you get a clot.
IMPLICATIONS
The prothrombin gene mutation is common in both men and women. It has no connection with the blood type. This mutation increases the risk of developing DVT & PE, both are equally dangerous if not treated properly. They damage the blood vessels of the legs and lungs and are life-threatening conditions. These problems increase with age and reduce life expectancy. Mainly, people with the prothrombin mutation will never develop a blood clot in their lifetime
LINE OF TREATMENT
There is no particular treatment for the mutation itself. Health care providers will assist in keeping blood from clotting too much. The treatment may include anticoagulants (blood thinners) and occasionally thrombolytic (“clot-busting”) medicines. The duration of treatment may vary depending, some people only need treatment for three months, but others may need blood thinner treatments indefinitely.
Patients who are on blood-thinning medication such as WARFARIN (COUMADIN), are asked to regularly monitor their PT/INR LEVEL. They can easily perform the blood test on their own using (PATIENT SELF TESTING) with the help of PT/INR METERS and can get their reading in quickly.
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