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

Research output: Contribution to journalArticle

6 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

Fingerprint

Methylenetetrahydrofolate Reductase (NADPH2)
Hyperhomocysteinemia
Folic Acid
Venous Thrombosis
Oxidoreductases
Cells
Arterial Occlusive Diseases
Mutation
Enzymes
Vascular Diseases
Serum
Hereditary Thrombophilia

Keywords

  • Hyperhomocysteinemia
  • Methylene tetrahydrofolate reductase
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology

Cite this

Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis. / Pathare, A.; Alkindi, S.; Albalushi, T.; Bayoumi, R.; Dennison, D.; Muralitharan, S.

In: Clinical and Laboratory Haematology, Vol. 26, No. 2, 04.2004, p. 143-146.

Research output: Contribution to journalArticle

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