Clinical and laboratory manifestations of the prothrombin gene mutation in women of reproductive age
Received 18 April 2019
Accepted for publication 3 July 2019
Published 2 August 2019 Volume 2019:10 Pages 255—263
Checked for plagiarism Yes
Review by Single-blind
Peer reviewers approved by Dr Melinda Thomas
Peer reviewer comments 3
Editor who approved publication: Dr Martin H. Bluth
AP Momot,1 MG Nikolaeva,2 NN Yasafova,3 MS Zainulina,4 KA Momot,3 IA Taranenko3
1Altai Branch of FSBI, National Research Center for Hematology, Barnaul, Russia; 2Obstetrics and Gynecology Department with The Course in Supplementary Vocational Education at FSBI of Higher Education, Altai State Medical University, Barnaul, Russia; 3Altai Branch of FSBI, National Research Center for Hematology, Ministry of Healthcare of the Russian Federation, Barnaul, Russia; 4Saint Petersburg State-Financed Health Institution, “Maternity Hospital № 6 Named after Professor V.F. Snegirev”, Obstetrics, Gynecology and Reproductive Medicine Department, Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia
Research objective: To research the association of prothrombin (factor II) activity given the prothrombin G20210A mutation carriage with its clinical manifestations as thrombotic complications.
Materials and methods: A prospective clinical cohort study of 290 women of reproductive age was conducted. Two cohort groups were identified: the study group of 140 patients with prothrombin mutation G20210A genotype and the control group of 150 women with G20210G genotype.
Results: The prothrombin G20210A mutation carriage is associated with the risk of thrombotic complications compared to the wild G20210G type (RR =17.1; p<0.0001) and is characterized by thrombosis localized both in the venous (66.7%) and arterial (33.3%) vascular pools. The threshold value of prothrombin activity (174.8%) for G20210A genotype was calculated, making it possible to conclusively predict the risk of thrombotic events with the accuracy of 90.4%.
Conclusion: The phenotypic manifestation of the prothrombin G20210A mutation in the form of venous and arterial thromboses in women of reproductive age is associated with a super-threshold increase in prothrombin (factor II) activity, which makes it possible to stratify the patients into the group of high risk of thromboses.
Keywords: prothrombin gene mutation, prothrombin mutation G20210A genotype, venous and arterial thromboses, prothrombin activity
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