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Related Experiment Video

Updated: May 19, 2026

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Published on: January 9, 2026

Thrombophilia screening: whom to test?

Aisha Bruce¹, M Patricia Massicotte

¹University of Alberta.

|August 18, 2012

Summary

Relatives with inherited thrombophilia, including deficiencies in proteins C, S, and antithrombin, face a significantly higher risk of developing venous thromboembolism (VTE). This study identifies key risk factors for VTE in pediatric patients and their families.

Area of Science:

Hematology
Genetics
Pediatrics

Background:

Venous thromboembolism (VTE) is a serious condition with genetic risk factors.
Inherited thrombophilia, including deficiencies in proteins C, S, and antithrombin, are known contributors to VTE.
Identifying at-risk individuals is crucial for VTE prevention.

Purpose of the Study:

To determine a novel method for identifying patients at increased risk of VTE.
To assess the risk of VTE in relatives of children with VTE who have inherited thrombophilia.

Main Methods:

Screening of children with VTE and their relatives for inherited thrombophilia.
Testing included protein C, protein S, and antithrombin deficiencies.
Genetic analysis for Factor V G1691A and Factor II G20210A mutations.

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The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

Published on: February 27, 2026

Main Results:

Relatives with protein C, protein S, and antithrombin deficiency showed a significantly higher risk of VTE.
Inherited thrombophilia is a significant risk factor for VTE in families.
The study identified specific inherited thrombophilias associated with increased VTE risk.

Conclusions:

A novel method for identifying high-risk VTE patients with specific thrombophilias has been determined.
Relatives with protein C, S, and antithrombin deficiencies are at substantially elevated VTE risk.
This research aids in the early identification and management of inherited thrombophilia and VTE risk.