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Molecular coagulation and thrombophilia

Dahlbäck, Björn LU and Hillarp, Andreas LU (2024) p.201-215
Abstract

In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include... (More)

In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include deficiencies of antithrombin, protein C, and protein S. In this review, we will outline the molecular mechanisms of the pro- and anticoagulant pathways and the molecular genetics of thrombophilia, which is a classical example of a multigenetic disease.

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Please use this url to cite or link to this publication:
author
and
organization
publishing date
type
Chapter in Book/Report/Conference proceeding
publication status
published
subject
keywords
Antithrombin, APC resistance, Blood coagulation, Factor V, Factor V leiden, Factor Xa, FV-short, Protein C, Protein S, TFPIA, Thrombophilia, Tissue factor pathway inhibitor, Venous thrombosis
host publication
Molecular Hematology
editor
Provan, D and Lazarus, H
edition
5
pages
201 - 215
publisher
Wiley
external identifiers
  • scopus:85190233408
ISBN
9781394180455
9781394180486
DOI
10.1002/9781394180486.ch15
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2024 John Wiley & Sons Ltd. All rights reserved.
id
cd9c5c30-d99c-446f-bca5-d76acf4fa67c
date added to LUP
2024-12-06 10:28:32
date last changed
2025-07-19 05:20:25
@inbook{cd9c5c30-d99c-446f-bca5-d76acf4fa67c,
  abstract     = {{<p>In healthy individuals, a delicate balance between pro- and anticoagulant systems ensures efficient hemostasis and an open vascular system. As sites of vascular damage, a series of procoagulant reactions take place, which are carefully controlled by several anticoagulant proteins. Circumstantial and genetic risk factors increase the risk of venous thrombosis. Circumstantial risk factors are usually short in duration, whereas the genetic risk factors are lifelong. The most common genetic risk factor causing thrombophilia is Factor V Leiden (FVL), a point mutation which eliminates one of the cleave sites for the anticoagulant activated protein C (APC), thus causing APC resistance. Other relatively common thrombophilic risk factors include deficiencies of antithrombin, protein C, and protein S. In this review, we will outline the molecular mechanisms of the pro- and anticoagulant pathways and the molecular genetics of thrombophilia, which is a classical example of a multigenetic disease.</p>}},
  author       = {{Dahlbäck, Björn and Hillarp, Andreas}},
  booktitle    = {{Molecular Hematology}},
  editor       = {{Provan, D and Lazarus, H}},
  isbn         = {{9781394180455}},
  keywords     = {{Antithrombin; APC resistance; Blood coagulation; Factor V; Factor V leiden; Factor Xa; FV-short; Protein C; Protein S; TFPIA; Thrombophilia; Tissue factor pathway inhibitor; Venous thrombosis}},
  language     = {{eng}},
  month        = {{03}},
  pages        = {{201--215}},
  publisher    = {{Wiley}},
  title        = {{Molecular coagulation and thrombophilia}},
  url          = {{http://dx.doi.org/10.1002/9781394180486.ch15}},
  doi          = {{10.1002/9781394180486.ch15}},
  year         = {{2024}},
}