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

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

Research output: Contribution to journalArticle

4 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 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.

Original languageEnglish
Pages (from-to)551-556
Number of pages6
JournalHaematologia
Volume32
Issue number4
Publication statusPublished - 2002

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Keywords

  • Hyperhomocysteinemia
  • MTHFR
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology

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