Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

@article{Casini2015DysfibrinogenemiaFM,
  title={Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management},
  author={Alessandro Casini and Marguerite Neerman-Arbez and Robert A. S. Ari{\"e}ns and Philippe de Moerloose},
  journal={Journal of Thrombosis and Haemostasis},
  year={2015},
  volume={13},
  pages={19 - 909}
}
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen. The diagnosis is usually based on discrepancies between fibrinogen activity and antigen levels, but could require more specialized techniques for the assessment of fibrinogen function, owing to some limitations in routine assays. Molecular abnormalities, which are frequently heterozygous missense mutations localized in exon 2 of FGA and exon 8 of FGG… 
Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region
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Results indicate that the 3 probands with dysfibrinogenemia were caused by mutations of A&agr; chain Arg16His, leading to dysfunctional blood coagulation.
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TLDR
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TLDR
The variants of CD identified in this cross-sectional study were either asymptomatic or had bleeding manifestations and showed similar laboratory features, irrespective of genotype, and three known pathogenic point mutations in the FGA and FGB genes were identified.
Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.
TLDR
A Danish family with knob A-related dysfibrinogenemia caused by the Aα Arg19Gly mutation is studied, suggesting that compound genotypes may contribute to the thrombogenic phenotype of these patients.
Fibrin clot structure in patients with congenital dysfibrinogenaemia.
TLDR
Fibrin clot properties were similar among hotspot mutations, including turbidity, fibrinolysis, clot permeability and fibrin fibre density assessed by laser scanner confocal microscopy in 24 genotyped patients with congenital dysfibrinogenaemia.
Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders.
TLDR
There was a weak genotype-phenotype correlation in CFDs and patients with dysfibrinogenemia were more symptomatic than in previous studies.
A novel fibrinogen gamma-chain mutation, p. γAla327Val, causes structural abnormality of D region and ultimately leads to congenital dysfibrinogenemia
TLDR
The γ Ala327Val heterozygous missense mutation in exon 8 of FGG gene γ-chain thus leads to abnormal fibrinogen structure and impairs the aggregation function of fibr inogen, and is reported here for the first time.
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