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

Clin Lab Haematol. 2004 Apr;26(2):143-6. doi: 10.1111/j.1365-2257.2004.00585.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arterial Occlusive Diseases / blood
  • Arterial Occlusive Diseases / complications*
  • Erythrocytes / metabolism
  • Folic Acid / blood
  • Heterozygote*
  • Humans
  • Hyperhomocysteinemia / blood
  • Hyperhomocysteinemia / complications*
  • Hyperhomocysteinemia / genetics*
  • Iliac Vein
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Popliteal Vein
  • Vena Cava, Inferior
  • Venous Thrombosis / blood
  • Venous Thrombosis / complications*
  • Vitamin B 12 / blood

Substances

  • Folic Acid
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Vitamin B 12