Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management [PDF]
Diagnostics, 2021 Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous,
Tomas Simurda +11 more
doaj +2 more sources
PB2654: RARE BLEEDING DISORDERS: LONG-TERM EXPERIENCE FROM A HEMOPHILIA CENTER [PDF]
Hemasphere, 2023 HemaSphere, Volume 7, Issue S3, August 2023.
Meimaridis A +5 more
europepmc +2 more sources
The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]
J Clin Lab AnalWe reported the first case of a FGB p.Arg17Stop mutation with a heterozygous gene status, and conducted research on the pathogenic mechanisms related to the fibrinogen Bβ (p.Arg17Stop) mutation. This mutation significantly impairs both the synthesis and secretion of fibrinogen.
Qian C +8 more
europepmc +2 more sources
PB2675: QUALITY OF LIFE IN INDIAN ADULTS WITH INHERITED BLEEDING DISORDERS [PDF]
Hemasphere, 2023 HemaSphere, Volume 7, Issue S3, August 2023.
Satish S +7 more
europepmc +2 more sources
The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]
Research and Practice in Thrombosis and HaemostasisCongenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian +2 more
doaj +2 more sources
A case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic disorders [PDF]
Clinical Case Reports, 2022 This is a case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic events. His fibrinogen concentration was negatively correlated with thrombin time and prothrombin time and abnormally negatively correlated with plasma D‐dimer levels ...
Lijian Wei +4 more
doaj +2 more sources
Correction to "A Case of Congenital Afibrinogenemia With Multiple Thrombotic and Hemorrhagic Disorders". [PDF]
Clin Case RepClinical Case Reports, Volume 12, Issue 11, November 2024.
europepmc +2 more sources
Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case [PDF]
Research and Practice in Thrombosis and Haemostasis, 2021 Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer +5 more
doaj +2 more sources
A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family [PDF]
HereditasCongenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie +5 more
doaj +2 more sources
Hereditary afibrinogenemia: A literature review and clinical observations [PDF]
Терапевтический архив, 2016 Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.
E V Yakovleva +10 more
doaj +1 more source