Determination and Interpretation of MTHFR Gene Mutations in Gynecology and Internal Medicine
This expert consensus article by the Hemostasis Group of the Polish Society of Hematologists and Transfusiologists addresses the clinical significance of two common MTHFR gene polymorphisms—c.665C>T (formerly 677C>T) and c.1286A>C (formerly 1298A>C). These polymorphisms can reduce MTHFR enzyme activity, leading to elevated homocysteine levels, particularly in individuals with folate deficiency.