A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing
Thomas G. DeLoughery, Beverley J. Hunt, Geoffrey D. Barnes, Jean M. Connors, Cihan Ay, Stefano Barco, Lana A. Castellucci, Gabriela Cesarman‐Maus, Erich Vinícius De Paula, Mert Dumantepe, Cecilia Guillermo, Federica Fedele, Lai Heng Lee, Claire McLintock, Eriko Morishita, Charles Marc Samama, Helen Chioma Okoye, Todd Robertson
Abstract
Testing for polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene is still a standard part of thrombophilia testing in many laboratories. However, it is clear that these polymorphisms are not risk factors for arterial or venous thrombosis and therefore should not be part of thrombophilia testing. Eliminating MTHFR from thrombophilia testing will reduce patient concerns and health care costs.
Topics & Concepts
Methylenetetrahydrofolate reductaseThrombophiliaMedicineGenetic testingVenous thromboembolismThrombosisGeneticsGeneInternal medicineGenotypeBiologyFolate and B Vitamins ResearchBlood Coagulation and Thrombosis MechanismsHemophilia Treatment and Research