Congenital Dysfibrinogenaemia: A Family Case Report DOI Open Access

G García-Donas

Journal of Hematology and Clinical Research, Journal Year: 2024, Volume and Issue: 8(1), P. 034 - 038

Published: Jan. 1, 2024

Congenital fibrinogen qualitative disorders, including dysfibrinogenemia and hypo-dysfibrinogenaemia, are highly heterogeneous, both in clinical manifestation for the mutational molecular spectrum driving these disorders. Correlations between phenotype genotype remain poorly defined. Considerable work lies ahead order to achieve diagnostic prognostic precision subsequently provide targeted management this rare disease. Here we report laboratory test, characterisation of a family with dysfibrinogenemia.

Language: Английский

Exploiting the Molecular Properties of Fibrinogen to Control Bleeding Following Vascular Injury DOI Open Access

Tanjot Singh,

Muhammad Hasan, Thembaninkosi G. Gaule

et al.

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(3), P. 1336 - 1336

Published: Feb. 5, 2025

The plasma protein fibrinogen is critical for haemostasis and wound healing, serving as the structural foundation of blood clot. Through a complex interaction between coagulation factors, soluble converted to insoluble fibrin networks, which form skeleton clot, an essential step limit loss after vascular trauma. This review examines molecular mechanisms by modulates bleeding, focusing on its interactions with other proteins that maintain network stability prevent premature breakdown. Moreover, we also cover role in ensuring clot through physiological platelets. We address therapeutic applications across various clinical contexts, including trauma-induced coagulopathy, postpartum haemorrhage, cardiac surgery. Importantly, full understanding function will allow development new therapeutics following trauma, remains key cause mortality worldwide. While current management strategies help injury, they are far from perfect future research should prioritise refining replacement developing novel agents stabilise network. Exploiting fibrinogen’s properties holds significant potential improving outcomes trauma care, surgical interventions obstetric haemorrhage.

Language: Английский

Citations

2
Evaluation of Trauma-Induced Coagulopathy by Systematic Insights Into Pathophysiology and Advances in Emergency Resuscitation DOI Open Access
Nadeem Rashid, Aqsa Nasir,

Bilal Fattani

et al.

Cureus, Journal Year: 2025, Volume and Issue: unknown

Published: May 10, 2025

Language: Английский

Citations

0
Congenital Dysfibrinogenaemia: A Family Case Report DOI Open Access

G García-Donas

Journal of Hematology and Clinical Research, Journal Year: 2024, Volume and Issue: 8(1), P. 034 - 038

Published: Jan. 1, 2024

Congenital fibrinogen qualitative disorders, including dysfibrinogenemia and hypo-dysfibrinogenaemia, are highly heterogeneous, both in clinical manifestation for the mutational molecular spectrum driving these disorders. Correlations between phenotype genotype remain poorly defined. Considerable work lies ahead order to achieve diagnostic prognostic precision subsequently provide targeted management this rare disease. Here we report laboratory test, characterisation of a family with dysfibrinogenemia.

Language: Английский

Citations

0