Related Experiment Video

Updated: Jun 16, 2025

Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
07:09

Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States

Published on: April 1, 2015

11.4K

Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients

Dominika Jaraskova1, Jan Chandoga1, Angelika Batorova2

  • 1Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
|August 16, 2024
PubMed

Insights

This study identified six novel genetic variants in fibrinogen genes (FGA, FGB, FGG) in Slovak patients with congenital hypofibrinogenemia and dysfibrinogenemia, expanding knowledge of these rare bleeding disorders.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare inherited bleeding disorders.
  • These conditions result from quantitative or qualitative defects in the fibrinogen gene.

Purpose of the Study:

  • To investigate the genetic basis and clinical features of congenital fibrinogen disorders.
  • Focus on patients from Slovakia registered at the National Haemophilia Centre.

Main Methods:

  • Genetic analysis of fibrinogen genes (FGA, FGB, FGG) was performed.
  • Polymerase chain reaction (PCR) followed by direct sequencing was utilized.
  • 36 patients with congenital fibrinogen disorders were analyzed.

Main Results:

  • Six novel genetic variants were identified across FGA, FGB, and FGG genes.
  • Specific variants were found in patients with CD (FGA, FGG) and CH (FGG, FGB).
  • Detailed molecular-genetic findings are reported for each identified variant.

Conclusions:

  • The study contributes to the understanding of genetic variants in congenital fibrinogen disorders.
  • Identified novel variants expand the known spectrum of genetic defects.
  • Provides valuable data on the genetic landscape of these disorders in the Slovak population.
Abstract

Keywords:
FGAFGBFGGdysfibrinogenemiahypofibrinogenemia

More Related Videos

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

18.9K
Author Spotlight: Time and Cost-Effective Fibrinogen-PAGE for Fibrinogenolytic Studies04:36

Author Spotlight: Time and Cost-Effective Fibrinogen-PAGE for Fibrinogenolytic Studies

Published on: April 19, 2024

476

Related Concept Videos

Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
758
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
654
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.3K