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Updated: Apr 29, 2026
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Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
Published on: April 1, 2015
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[Pathogenesis study of inherited dysfibrinogenemia]
Zhaoping Liao1, Siqi Xu, Huqiang Tang
1Department of Laboratory Medicine, Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China.
Zhonghua Yi Xue Za Zhi
|May 22, 2014
Summary
A genetic mutation in FGG (c.1001 A>C) causes inherited dysfibrinogenemia in a family, impairing fibrinogen function and structure. This dominant mutation affects fibrin clot formation.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Context:
- Inherited dysfibrinogenemia is a rare bleeding disorder.
- Understanding its genetic basis is crucial for diagnosis and management.
Purpose:
- To investigate the molecular pathogenesis of inherited dysfibrinogenemia in a multi-generational family.
- To identify the specific genetic mutation responsible for the disorder.
Summary:
- Coagulation studies revealed prolonged thrombin time and reduced fibrinogen activity, despite normal antigen levels.
- Genetic analysis identified a homozygous FGG c.1001 A>C mutation in affected individuals and heterozygous in others.
- Molecular modeling indicated the Asn308Thr mutation disrupts fibrinogen fiber assembly and stability.
Impact:
- Identifies a novel mutation in the FGG gene associated with dominant dysfibrinogenemia.
- Provides insights into the structural and functional consequences of fibrinogen mutations.
- Contributes to the understanding of fibrin clot formation and hemostasis.
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