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

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

4 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)551-556
عدد الصفحات6
دوريةHaematologia
مستوى الصوت32
رقم الإصدار4
حالة النشرPublished - 2002

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2720???

بصمة

أدرس بدقة موضوعات البحث “Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا