What is prothrombin mutation?

The Prothrombin Gene Mutation is a change in the gene that controls a blood clotting protein that circulates in the blood called prothrombin. This particular gene change leads to an increase in the level of this protein in the blood.

How common is prothrombin 20210 mutation?

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.

What is a normal prothrombin time?

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.

Does prothrombin mutation cause clots?

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.

Are blood clotting disorders hereditary?

Inherited causes of blood clots are related to a genetic tendency for clot formation. People with inherited conditions tend to develop blood clots before 45 years of age. For these individuals, their blood clots may occur without a cause, and they are likely to have more than one blood clot in their lifetime.

How do you test for prothrombin deficiency?

A molecular diagnosis of prothrombin deficiency involves detection of a mutation within the prothrombin gene. Molecular testing can be performed by capillary-based Sanger sequencing or by deletion/duplication testing using array comparative genomic hybridization.

What is the normal range for PT INR?

In healthy people an INR of 1.1 or below is considered normal. An INR range of 2.0 to 3.0 is generally an effective therapeutic range for people taking warfarin for disorders such as atrial fibrillation or a blood clot in the leg or lung.

Where is prothrombin found in blood?

Prothrombin is produced in the liver and is co-translationally modified in a vitamin K-dependent reaction that converts 10-12 glutamic acids in the N terminus of the molecule to gamma-carboxyglutamic acid (Gla).

What causes high prothrombin time?

The list of medical condition causes of Increased prothrombin time (Elevated PTT ) includes: Alcohol abuse. Medications. Chronic hepatitis B. Chronic hepatitis C.

What is heterozygous MTHFR mutation?

The heterozygous MTHFR gene mutation means the mutation is on one copy of the gene, while Homozygous means it is on both copies of the gene. MTHFR mutation can result in the inability to process folic acid well and cause homocysteine levels to be elevated.

What is factor 2 gene mutation?

Mutations in the prothrombin gene, known as factor II mutations, are genetically related, so they are acquired through inheritance. This gene is responsible for producing prothrombin , which is converted into thrombin in vivo, so this defect is sometimes known as a thrombin gene mutation.

What is the prothrombin gene mutation?

Prothrombin gene mutation is an inherited condition that increases a person’s chance of forming blood clots. It is known as a type of thrombophilia or blood clotting disorder, and is one of the second most common inherited blood clotting disorder. Most people with prothrombin gene mutation never develop abnormal…

What is prothrombin mutation? The Prothrombin Gene Mutation is a change in the gene that controls a blood clotting protein that circulates in the blood called prothrombin. This particular gene change leads to an increase in the level of this protein in the blood. How common is prothrombin 20210 mutation? A change in the prothrombin…