Medical expert of the article
New publications
Mutation of the prothrombin gene q20210A: causes, symptoms, diagnosis, treatment
Last reviewed: 13.03.2024
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Prothrombin, or factor II, under the influence of factors X and Xa passes into an active form, which activates the formation of fibrin from fibrinogen. It is believed that this mutation among hereditary thrombophilia is 10-15%, but occurs in approximately 1-9% of mutations without thrombophilia. Among patients with deep thrombosis, a prothrombin mutation is found in 6-7%. Like other hereditary thrombophilia, this mutation is characterized by venous thrombosis of various locations, the risk of which increases hundreds of times during pregnancy.
Diagnosis of the mutation of the prothrombin gene is carried out by PCR. More recently, data on the frequent combination of the mutation of the prothrombin gene and factor V have been published. A combination of these factors is characterized by very early thromboses - at the age of 20-25 years - with an increase in thromboembolic complications during pregnancy and after childbirth.
The management and treatment of patients with a defect of prothrombin is the same as that of patients with factor V mutation.
What tests are needed?