title: Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis.
abstract: Hyperhomocysteinemia is known to be associated with arterial occlusive vascular disease and venous thrombosis. Here, we report a young ethnic Omani patient with recurrent venous thrombosis who was found to be heterozygous for 677C-T mutation in the methyltetrahydrofolate reductase (MTHFR) enzyme. Moderate hyperhomocystenemia was also observed, in the presence of normal red cell folate and serum B12 levels. No other documented marker of hereditary thrombophilia could be demonstrated in this patient, in spite of extensive investigation on multiple occasions.
authors.affiliation: Department of Haematology, College of Medicine, Sultan Qaboos University Hospital, Muscat, Sultante of Oman.
authors.forename: A
authors.initials: A
authors.lastname: Pathare
authors.forename: S
authors.initials: S
authors.lastname: Alkindi
authors.forename: T
authors.initials: T
authors.lastname: Albalushi
authors.forename: R
authors.initials: R
authors.lastname: Bayoumi
authors.forename: D
authors.initials: D
authors.lastname: Dennison
authors.forename: S
authors.initials: S
authors.lastname: Muralitharan
mesh_terms: D000328:Adult; D001157:Arterial Occlusive Diseases / Q000097:blood / Q000150:complications*; D004912:Erythrocytes / Q000378:metabolism; D005492:Folic Acid / Q000097:blood; D006579:Heterozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000150:complications* / Q000235:genetics*; D007084:Iliac Vein; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011152:Popliteal Vein; D014682:Vena Cava, Inferior; D020246:Venous Thrombosis / Q000097:blood / Q000150:complications*; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12