Patients with severe coronavirus disease 2019 have high frequency of factor 5 Leiden and prothrombin gene mutations

Blood Coagul Fibrinolysis. 2023 Jan 1;34(1):14-19. doi: 10.1097/MBC.0000000000001167. Epub 2022 Sep 13.

Abstract

We investigated the frequency of factor 5 Leiden (FVL) and prothrombin gene (PTG) mutations in patients with severe coronavirus disease 2019 (COVID-19). Our primary aim is to reveal whether these mutations are associated with severity of disease and mortality. A total of 249 patients were included in this cross-sectional study. Severe COVID-19 cases (with oxygen saturation of less than 90 mmHg and who received ventilation support invasively or noninvasively) were included. FVL and PTG mutations were identified by real time- PCR technique. Frequency of mutations for FVL was 11.7%, whereas for PTG was 3.5%. The frequency of FVL and PTG's mutations in our patient group was found to be significantly higher than the normal population ( P < 0.0001, 0.004, respectively). There was no difference in the frequency of mutations of FVL and PTG between the patients ventilated - invasively and noninvasively. There was also no difference in D-dimer, ferritin, fibrinogen, ex status, and entubational status between the groups of FVL and PTG mutated and wild-type. To the best of our knowledge, it is the first time that we have examined the frequencies of FVL and PGM's mutations in severe COVID-19 disease on such a large scale. The frequencies of both mutations in severe COVID-19 patients were higher than in the healthy population. We believe that studies prospectively designed, including asymptomatic and mild COVID-19 patients, will provide more comprehensive information on the subject.

MeSH terms

  • COVID-19* / genetics
  • Cross-Sectional Studies
  • Factor V* / genetics
  • Gene Frequency
  • Humans
  • Mutation
  • Prothrombin / genetics

Substances

  • Factor V
  • Prothrombin

Supplementary concepts

  • Thrombophilia, hereditary