FACTOR-V LEIDEN MUTATION INVESTIGATED BY AMPLIFICATION CREATED RESTRICTION ENZYME SITE (ACRES) IN PNH PATIENTS WITH AND WITHOUT THROMBOSIS

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemol ytic anemia characterized by intravascular hemolysis, often associated with neutropenia and thrombocytopenia. Venous thrombosis, including t he Budd-Chiari syndrome, is one of the major complications of PNH, but not all PNH patients develop thrombosis. The basis for the high risk of thrombosis in PNH is not known. Recent reports have shown that Fact or V Leiden mutation is a common cause of increased tendency to develo p thrombosis. Fifty-six PNH patients were tested for Factor V Leiden m utation using Amplification Created Restriction Enzyme Site methods. P NH patients do not show an increased frequency of Factor V Leiden muta tions.