Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis

Haematologia

Volumn 32, Issue 4, 2002, Pages 551-556

  Pathare, Anil ^a   Al Kindi, Salam ^a   Al Belushi, Talal ^a   Bayoumi, Riad ^a   Dennison, David ^a   Murlitharan, S ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

Hyperhomocysteinemia; MTHFR; Thrombophilia

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; HEPARIN; HOMOCYSTEINE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; WARFARIN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; DISEASE ASSOCIATION; ERYTHROCYTE LEVEL; FOLIC ACID BLOOD LEVEL; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; MALE; MEDICAL DOCUMENTATION; MUTATIONAL ANALYSIS; OMAN; PATHOGENESIS; PERIPHERAL OCCLUSIVE ARTERY DISEASE; POLYMERASE CHAIN REACTION; RECURRENT DISEASE; THROMBOPHILIA; VEIN THROMBOSIS; VITAMIN BLOOD LEVEL;

ADULT; HETEROZYGOTE; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POINT MUTATION; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 0037606005     PISSN: 00176559     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Romana, M., Murlitharan, S., Ramasawmy, R., Nagel, R. L., Krishnamoorthy, R., Thrombosis-associated gene variants in sickle cell anemia, Thromb. Haemost. 87, 356-358 (2002).
2. Miner, S. E., Evroski, J., Cole, D. E., Clinical Chemistry and molecular biology of homocysteine metabolism: an update, Clin. Biochem. 30, 189-201 (1997).
3. Gemmati, D., Previati, M., Serino, M. L., Moratelli, S., Guerra, S., Capitani, S., Forini, E., Ballerini, G., Scapoli, G. L., Low folate levels and thermolabile methylenetetrahydrofolate reductase as primary determinant of mild hyperhomocysteinemia in normal and thromboembolic subjects, Aterioscler. Thromb. Vasc. Biol. 19, 1761-1767 (1999).
4. Fermo, L., Viagano D'Angelo, S., Paroni, R., Mazzola, G., Calori, G., D'Angelo, A., Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease, Ann. Intern. Med. 123, 747-753 (1995).
5. Falcon, C. R., Cattaneo, M., Panzeri, D., Martinelli, L, Mannucci, P. M., High prevalence of hyperhomocysteinemia in patients with juvenile venous thrombosis, Arterioscler. Thromb. Vasc. Biol. 14, 1080-1083 (1994).
6. Den Heijer, M., Koster, T., Blom, H. J., Bos, G. M. J., Breit, E., Reitsma, P. H., Vandenbroucke, J. P., Rosendaal, F. R., Hyperhomocysteinemia as a risk factor for deep venous thrombosis, N. Engl. J. Med. 334, 759-762 (1996).
7. Murin, S., Marelich, G. P., Arroliga, A. C., Matthay, R. A., Hereditary thrombophilia and venous thromboembolism, Am. J. Respir Crit. Care Med. 158, 1369-1373 (1998).
8. Amundsen, T., Ueland, P. M., Waage, A., Plasma homocysteine levels in patients with deep venous thrombosis, Arterioscler. Thromb. Vasc. Biol. 15, 1321-1323 (1995).
9. Cattaneo, M., Hyperhomocysteinemia, atherosclerosis and thrombosis, Thromb. Haemost. 81, 165-176 (1999).
10. Jacques, P. F., Bostom, A. G., William, R. R., Ellison, R. C., Eckfeldt, J. H., Rosenberg, I. H., Selhub, J., Rozen, R., Relation between folate status a common mutation in methylene tertahydrofolate reductase and plasma homocysteine concentrations, Circulation 93, 7-9 (1996).
11. Malinow, M. R., Nieto, F. J., Kruger, W. D., Duell, P. B., Hess, D. L., Gluckman, R. A., Block, P. C., Holzgang, C. R., Anderson, P. H., Seltzer, D., Upson, B., Lin, Q. R., The effects of folic acid supplementation on plasma homocysteine are modulated by multivitamin use and methyltetrahydrofolate reductase genotypes, Arterioscler. Thromb. Vasc. Biol. 17, 1157-1162 (1997).
12. van Teunenbroek, A., Wijburg, F. A., ten Cate, J. W., van den Berg, W., Weening, R. S., Thromboembolic complications in an asplenic HbE-beta-thalassaemia patient, Neth. J. Med. 35, 123-127 (1989).
13. Wijburg, F. A., van den Berg, W., van Teunenbroek, A., Weening, R. S., Thromboembolic complications after splenectomy in HbE-beta-thalassaemia, Eur. J. Pediatr. 147, 444-445 (1988).
14. Butthep, P., Bunyaratvej, A., Funahara, Y., Kitaguchi, H., Fucharoen, S., Sato, S., Bhamarapravati, N., Possible evidence of endothelial cell activation and disturbance in thalassemia: an in vitro study, Southeast Asian J. Trop. Med. Public Health 28 (Suppl. 3), 141-148 (1997).