Molecular basis of rare congenital bleeding disorders

A Dorgalaleh, M Bahraini, M Shams, F Parhizkari… - Blood Reviews, 2023 - Elsevier
Rare bleeding disorders (RBDs), including factor (F) I, FII, FV, FVII, combined FV and FVIII
(CF5F8), FXI, FXIII and vitamin-K dependent coagulation factors (VKCF) deficiencies, are a …

A comprehensive overview of coagulation factor V and congenital factor V deficiency

S Tabibian, Y Shiravand, M Shams… - … in thrombosis and …, 2019 - thieme-connect.com
Coagulation factor (F) V is a glycoprotein that plays an essential role in the formation of the
prothrombinase complex, which is critical for progressing clot formation. FV deficiency is a …

Management of rare inherited bleeding disorders: proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

M Trossaert, V Chamouard… - European Journal of …, 2023 - Wiley Online Library
Introduction The rare coagulation disorders may present significant difficulties in diagnosis
and management. In addition, considerable inter‐individual variation in bleeding phenotype …

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding …

D Nugent, SS Acharya, KJ Baumann… - Expert review of …, 2023 - Taylor & Francis
Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for
generating a strong evidence foundation for optimal diagnosis and management. Without …

Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003‐2015: a national cohort study

EA Chalmers, J Alamelu, PW Collins, M Mathias… - …, 2018 - Wiley Online Library
Introduction Intracranial haemorrhage in children with inherited bleeding disorders is a
potentially life‐threatening complication and presents a significant therapeutic challenge …

Risk and management of intracerebral hemorrhage in patients with bleeding disorders

A Dorgalaleh, Y Farshi, K Haeri… - … in thrombosis and …, 2022 - thieme-connect.com
Intracerebral hemorrhage (ICH) is the most dreaded complication, and the main cause of
death, in patients with congenital bleeding disorders. ICH can occur in all congenital …

Intracranial hemorrhage in congenital bleeding disorders

S Tabibian, H Motlagh, M Naderi… - Blood Coagulation & …, 2018 - journals.lww.com
Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital
bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency …

Intracranial hemorrhage: a devastating outcome of congenital bleeding disorders—prevalence, diagnosis, and management, with a special focus on congenital factor …

SER Alavi, M Jalalvand, V Assadollahi… - … in thrombosis and …, 2018 - thieme-connect.com
Intracranial hemorrhage (ICH) is a medical emergency. In congenital bleeding disorders,
ICH is a devastating presentation accompanied with a high rate of morbidity and mortality …

[HTML][HTML] Factor XIII deficiency

A Mangla, H Hamad, RB Killeen, A Kumar - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Factor XIII Deficiency - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage MyNCBI …

Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders

S Mohsenian, O Seidizadeh, M Mirakhorli… - … and Apheresis Science, 2021 - Elsevier
Abstract Introduction Congenital fibrinogen disorders (CFDs) are caused by mutations in the
FGA, FGB and FGG genes and are classified as quantitative and qualitative fibrinogen …