| Title | Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis. | | Author(s) | Pathare A, Alkindi S, Albalushi T, Bayoumi R, Dennison D, Muralitharan S | | Institution | Department of Haematology, College of Medicine, Sultan Qaboos University Hospital, Muscat, Sultante of Oman. | | Source | Clin Lab Haematol 2004 Apr; 26(2):143-6. | | MeSH | Adult
Arterial Occlusive Diseases
Erythrocytes
Folic Acid
Heterozygote
Humans
Hyperhomocysteinemia
Iliac Vein
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Mutation
Popliteal Vein
Vena Cava, Inferior
Venous Thrombosis
Vitamin B 12
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 15053809 |
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