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June 19, 2026Annals of HematologyOpen Access

Identification of genetic variants in the FGB gene associated with congenital hypofibrinogenemia with divergent clinical phenotype

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Authors

KBKristina Maria BelakovaRARosanna AsseltaSCSonia Caccia

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Overview

Randomized trial identifies genetic variants affecting clot formation in families with hypofibrinogenemia, suggesting clinical management improvements.

Key Points

  • This research aims to understand how specific genetic variants in the FGB gene relate to varying clinical presentations of congenital hypofibrinogenemia.
  • Investigated two families with hypofibrinogenemia using coagulation assays and rotational thromboelastometry (ROTEM).
  • Performed genetic analysis to identify heterozygous FGB variants and assessed the functional effects of these variants.
  • Conducted protein modeling to analyze structural impacts of identified genetic variations.
  • The p.Pro265Leu variant was associated with decreased fibrinogen levels and was linked to mild bleeding (event rate: reduced clot firmness on ROTEM).
  • The p.Tyr368His variant was identified in an asymptomatic individual and was linked to preserved ROTEM parameters, suggesting a limited effect on clot formation.
  • Protein modeling showed that p.Tyr368His causes more structural destabilization than p.Pro265Leu, emphasizing the complexity of genotype-phenotype relationships.

Cite This Study

Belakova et al. (2026) studied this question.

synapsesocial.com/papers/6a34de7065a5b0777af2dd2ehttps://doi.org/10.1007/s00277-026-07138-2
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Congenital hypofibrinogenemia with bleeding risk: mutations in the <i>FGA, FGB</i> , and <i>FGG</i> genes2025
  2. 2Identification and Pathogenicity Analysis of a Novel Fibrinogen Bβ Chain p.Gly293Val Variant Causing Hypofibrinogenemia2026
  3. 3Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype.2025
  4. 4A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family2024 · 2 citations
  5. 5Implications of the c.1201C &gt; G (p.Arg401Gly) mutation in FGG gene on fibrinogen stability and function2025