What question did this study set out to answer?

This research aims to understand how specific genetic variants in the FGB gene relate to varying clinical presentations of congenital hypofibrinogenemia.

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 Belakova RARosanna Asselta SCSonia 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/6a34de7065a5b0777af2dd2e https://doi.org/10.1007/s00277-026-07138-2

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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

View Full Paper

Ask AI

Bookmark

Authors

KBKristina Maria Belakova RARosanna Asselta SCSonia Caccia

Discussion

Member takes

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/6a34de7065a5b0777af2dd2e https://doi.org/10.1007/s00277-026-07138-2

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