VPB1169 - The Incidence of FV Leiden and MTHFR Gene Mutations in Patients with Hemophilia A and B in the North-Western Region of Russia

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: Virtual

Presenting Author(s)

VS

Vitaly Soldatenkov, PhD, MD

Head of the Surgery Department
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia

Co-Author(s)

OS

Olga Soldatenkova

Junior researcher
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia
KK

Kirill Komissarov

Junior researcher
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia
VB

Viacheslav Burakov

Senior researcher
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia
NS

Natalya Saltykova

Surgeon
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia
LP

Lyudmila Papayan

head of blood coagulation laboratory
Russian Research Institute of Haematology and Transfusiology
Saint Petersburg, Saint Petersburg City, Russia
NS

Natalya Silina

Head of the Hemostasis pathology department
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia
Sergey Kapustin, PhD

Leading Researcher
Russian Research Institute of Hematology and Transfusiology
Saint Petersburg, Saint Petersburg City, Russia
OS

Olga Smirnova

researcher
RUSSIAN RESEARCH INSTITUTE OF HEMATOLOGY AND TRANSFUSIOLOGY
Saint-Petersburg, Saint Petersburg City, Russia
AT

Alexey Titov

Orthopedic surgeon
Russian Scientific Research Institute of Hematology and Transfusiology
Saint-Petersburg, Saint Petersburg City, Russia

Background: The role of prothrombotic markers in patients with hemophilia is still unclear. On the one hand, procoagulatory changes may have protective effect on the clinical course. On the other hand, novel therapy approaches and high-dose perioperative factor prophylaxis may be complicated by thrombosis. So all the risk factors should be considered before the drug prescription.

Aims: To study the incidence of genetic thrombophilia markers (FV Leiden, MTHFR) in patients with hemophilia A and B and compare it to the average for population in the North-Western region of Russia.

Methods: 98 case-records of patients with hemophilia A (85 patients) and B (13 patients), who underwent treatment in Russian Scientific Research Institute of Hematology and Transfusiology in 2020-2021, were studied. The results of molecular genetics testing for thrombophilic mutations were analyzed.

Results: 1) The incidence of heterozygous FV Leiden mutation in the studied group comprised 4,08%. The difference between this value and the average for the population (4,4%) was not statistically significant.
2) The difference between incidences of the heterozygous FV Leiden mutation in patients with hemophilia A and B was not statistically significant.
3) The incidence of heterozygous MTHFR gene mutation comprised 51,22%, which exceeds the average for the population (39,5%). But the further statistical analysis showed that the difference was not statistically significant.
4) The incidence of homozygous MTHFR gene mutation comprised 8,54%. The difference between this value and the average for the population (10,1%) was not statistically significant.

Conclusion(s): The incidence of FV Leiden and MTHFR mutation in hemophiliacs of the North-Western region of Russia does not statistically significant differ from the average population which means similar risks in terms of the correction of coagulation defect. The study will be proceeded to estimate other prothrombotic markers and their impact on clinical course.