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

Fingerprint

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

Keywords

  • Hyperhomocysteinemia
  • MTHFR
  • Thrombophilia

ASJC Scopus subject areas

  • Hematology

Cite this

Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis. / Pathare, Anil; Al Kindi, Salam; Al Belushi, Talal; Bayoumi, Riad; Dennison, David; Murlitharan, S.

In: Haematologia, Vol. 32, No. 4, 2002, p. 551-556.

Research output: Contribution to journalArticle

@article{b8c0dd271bff4f2e94d8dc4cfb8ed4c4,
title = "Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis",
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.",
keywords = "Hyperhomocysteinemia, MTHFR, Thrombophilia",
author = "Anil Pathare and {Al Kindi}, Salam and {Al Belushi}, Talal and Riad Bayoumi and David Dennison and S. Murlitharan",
year = "2002",
language = "English",
volume = "32",
pages = "551--556",
journal = "Haematologia",
issn = "0017-6559",
publisher = "VSP BV",
number = "4",

}

TY - JOUR

T1 - Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis

AU - Pathare, Anil

AU - Al Kindi, Salam

AU - Al Belushi, Talal

AU - Bayoumi, Riad

AU - Dennison, David

AU - Murlitharan, S.

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

KW - Hyperhomocysteinemia

KW - MTHFR

KW - Thrombophilia

UR - http://www.scopus.com/inward/record.url?scp=0037606005&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037606005&partnerID=8YFLogxK

M3 - Article

VL - 32

SP - 551

EP - 556

JO - Haematologia

JF - Haematologia

SN - 0017-6559

IS - 4

ER -