Literature DB >> 22023246

Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon.

Rouba Hoteit1, Ali Taher, Rabih Nassar, Zaher Otrock, Racha Halawi, Rami A R Mahfouz.   

Abstract

AIM: Molecular diagnostics has markedly improved the diagnosis and workup of different clinical conditions including hypercoagulable state or thrombophilia where different genes are involved. In this report, which is the largest report in the medical literature and the first in Lebanon, we describe the prevalence of simultaneous mutations in the three major thrombophilia genes Factor V, Factor II, and methylenetetrahydrofolate reductase.
MATERIALS AND METHODS: Using a polymerase chain reaction and reverse hybridization assay for the corresponding mutations identification, 2248 referred cases were analyzed.
RESULTS: Only 25 cases were found to be simultaneously positive for the three mutations at a prevalence rate of 1.1%.
CONCLUSION: Compared with other populations, this prevalence rate is considered high, possibly the highest, and warrants future clinical studies and follow-up.

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Year:  2011        PMID: 22023246     DOI: 10.1089/gtmb.2011.0114

Source DB:  PubMed          Journal:  Genet Test Mol Biomarkers        ISSN: 1945-0257


  2 in total

Review 1.  Thrombophilia and Recurrent Pregnancy Loss: Is heparin still the drug of choice?

Authors:  Adel Abu-Heija
Journal:  Sultan Qaboos Univ Med J       Date:  2014-01-27

2.  Triple thrombophilic simultaneous mutations in patients after bariatric surgery: is there a role for screening in the Eastern Mediterranean?

Authors:  Hussein Nassar; Ahmad Zaghal; Ali Taher; Rami Mafouz; Bassem Safadi; Mariam Kanso; Mohamad Khalife; Walid Faraj
Journal:  J Surg Case Rep       Date:  2018-06-15
  2 in total

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