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Updated: Mar 3, 2026

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation
Published on: May 23, 2025
Duplication of the prothrombin gene is associated with a significant increase in thrombin generation
Annelie Siegemund1, Thomas Siegemund1, Hagen Bönigk1
1Medical Service Center Limbach Magdeburg, Center of Blood Coagulation Disorders and Vascular Diseases, Magdeburg, Germany.
Background:
Prothrombin gene mutations can be associated with either a thrombotic or a bleeding risk. Genomic studies and coagulation workup can provide valuable information to better understand their clinical importance.
Key Clinical Question:
We describe the case of a woman with a duplication of the entire prothrombin gene.
Clinical Approach:
A 42-year-old woman presented for thrombophilia screening following a history of unprovoked arterial and superficial venous thrombotic episodes. Coagulation workup demonstrated a marked increase in prothrombin levels and ex vivo thrombin generation. Genetic analysis revealed a duplication of at least 307.9 kb (maximum 366.7 kb): arr[ChRCh38]:11p11.2(46,455,533-46,763,446)x3, encompassing the entire prothrombin gene and 6 adjacent protein-coding genes (HARBI1, ATG13, ARHGAP1, and ZNF408 completely involved, and AMBRA1 and CKAP5 partially involved).
Conclusion:
The present case demonstrated duplication of the entire prothrombin gene, associated with a significant hypercoagulable risk, a finding not previously reported in the literature.
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