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Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage

Authors Khalife S, Bissar-Tadmouri N

Received 24 October 2019

Accepted for publication 8 January 2020

Published 21 January 2020 Volume 2020:16 Pages 53—56

DOI https://doi.org/10.2147/VHRM.S235784

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Magnus Bäck


Sara Khalife, Nisrine Bissar-Tadmouri

Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Tripoli, Lebanon

Correspondence: Sara Khalife
Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Tripoli, Lebanon
Tel +961 70 557389
Email sara.khalifeh@bau.edu.lb

Introduction: Factor V Leiden (G1691A), prothrombin (G20210A) and MTHFR (C677T) gene mutations were investigated in many studies for their association with Deep Venous Thrombosis.
Case Presentation: A North Lebanese family has been examined, from an index case, a 40-year-old woman, who had a history of venous thrombosis with unexplained recurrent miscarriage. The index case was found to be heterozygous for factor V Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T gene variants. Her family members were heterozygous for at least two of the three-point mutations, and multiple risk factors associated with thrombophilia were identified.
Conclusion: Our findings emphasize the need for clarifying the utility and futility of thrombophilia testing in the era of molecular diagnostics.

Keywords: factor V Leiden G1691A, MTHFR C677T, prothrombin G20210A, deep venous thrombosis, recurrent pregnancy loss, Lebanese family

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