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.
