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

A. Pathare*, S. Alkindi, T. Albalushi, R. Bayoumi, D. Dennison, S. Muralitharan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)143-146
Number of pages4
JournalClinical and Laboratory Haematology
Volume26
Issue number2
DOIs
Publication statusPublished - Apr 2004

Keywords

  • Hyperhomocysteinemia
  • Methylene tetrahydrofolate reductase
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology

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