First Case of the Rare Prothrombin Belgrade Variant in a Mexican-American Family with VTE
Émile Moura Coelho da Silva, Genetic Counselor at UTHealth Houston, shared a post on LinkedIn:
“Best birthday gift this year: my first first-author paper published! Excited to finally see this work in print.
Title: Identification of Prothrombin Belgrade Variant in a Mexican–American Family with Recurrent Deep Vein Thrombosis
Authors: Émile Moura Coelho da Silva, Natalie Montanez, Miguel Escobar
We report the first case of the rare prothrombin Belgrade variant (c.1787G>A, p.Arg596Gln) in a Mexican-American family, associated with recurrent early-onset venous thromboembolism (VTE). This case highlights the potential underrecognition of antithrombin-resistant prothrombin variants and supports the value of comprehensive genetic thrombophilia testing in patients with negative standard hypercoagulable studies but a strong personal and/or family history of VTE.
Grateful to Dr. Miguel Escobar and Natalie Montanez for their support and collaboration!”
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