Journal of Blood Medicine (Aug 2019)

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

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

Journal volume & issue
Vol. Volume 10
pp. 255 – 263

Abstract

Read online

AP Momot,1 MG Nikolaeva,2 NN Yasafova,3 MS Zainulina,4 KA Momot,3 IA Taranenko31Altai 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, RussiaResearch 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

Keywords