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

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

8 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 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.

اللغة الأصليةEnglish
الصفحات (من إلى)143-146
عدد الصفحات4
دوريةClinical and Laboratory Haematology
مستوى الصوت26
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - أبريل 2004

ASJC Scopus subject areas

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