Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis.
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 the C677T mutation in the enzyme methyltetrahydrofolate reductase (MTHFR). Moderate hyperhomocysteinemia was also documented in the presence of normal red cell folate and serum B12 levels. No other marker usually associated with hereditary thrombophilia could be demonstrated in the patient, despite extensive investigations on multiple occasions.
Pathare
Anil
A
Department of Haematology, College of Medicine, Sultan Qaboos University Hospital, Al Khod, P.O. Box 35, Muscat 123, Oman. avp16@hotmail.com
al Kindi
Salam
S
al Belushi
Talal
T
Bayoumi
Riad
R
Dennison
David
D
Murlitharan
S
S
D000328:Adult; D006579:Heterozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D019851:Thrombophilia / Q000150:complications / Q000201:enzymology / Q000235:genetics; D020246:Venous Thrombosis / Q000150:complications / Q000201:enzymology / Q000235:genetics*
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)