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CC BY 4.0 · TH Open 2025; 09: a27665989
DOI: 10.1055/a-2766-5989
Case Report

Identification of Prothrombin Belgrade Variant in a Mexican–American Family with Recurrent Deep Vein Thrombosis

Authors

  • Émile Moura Coelho da Silva 

    1   Gulf States Hemophilia and Thrombophilia Center, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States
    2   Department of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States

  • Natalie Montanez

    1   Gulf States Hemophilia and Thrombophilia Center, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States

  • Miguel Escobar

    1   Gulf States Hemophilia and Thrombophilia Center, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States
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Abstract

A rare prothrombin variant (c.1787G > A, p.Arg596Gln), also known as the prothrombin Belgrade variant, has been associated with an increased predisposition to thrombosis through resistance to antithrombin. This variant has been previously reported in individuals from Serbia, Japan, China, and India. In this case report, we described the first reported case of heterozygosity for the prothrombin Belgrade variant in a Mexican–American family. Affected individuals had negative results on standard hypercoagulable studies; however, they exhibited a history of early-onset and recurrent venous thromboembolism (VTE). Although rare, the prothrombin Belgrade variant—and other prothrombin variants associated with antithrombin resistance—may be underrecognized in patients with recurrent thrombotic events, particularly among individuals from ethnic backgrounds not previously associated with this variant. These findings support the consideration of comprehensive genetic thrombophilia testing, including full sequencing of the prothrombin gene, in patients with negative standard hypercoagulable studies but a strong personal and/or family history of VTE.

Keywords

F2 gene variant - prothrombin - thrombophilia - venous thromboembolism

Authors' Contributions

E.M.C.S. drafted and revised the manuscript. N.M. and M.E. critically revised the manuscript. All authors have read the manuscript and approved its content.




Publication History

Received: 20 August 2025

Accepted: 05 December 2025

Article published online:
22 December 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

Bibliographical Record
Émile Moura Coelho da Silva, Natalie Montanez, Miguel Escobar. Identification of Prothrombin Belgrade Variant in a Mexican–American Family with Recurrent Deep Vein Thrombosis. TH Open 2025; 09: a27665989.
DOI: 10.1055/a-2766-5989
 

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