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Clinical and laboratory manifestations of the prothrombin gene mutation in women of reproductive age

Authors Momot AP, Nikolaeva MG, Yasafova NN, Zainulina MS, Momot KA, Taranenko IA

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 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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