Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder [PDF]
Indian Journal of Anaesthesia, 2011 Congenital afibrinogenemia is a very rare autosomal recessive disorder, results from mutation that affects plasma fibrinogen concentration. It is frequently associated with bleeding diathesis of varying severity.
Sham Sunder Goyal +3 more
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Cellulitis on face in a patient with congenital afibrinogenemia [PDF]
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 Congenital afibrinogenemia is a rare coagulation disorder, with an estimated prevalence of 1 : 1,000,000, characterized by a complete absence to reduced level of circulating fibrinogen.
G D Chandan +4 more
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Isolated scalp hematoma: An unusual presentation of congenital afibrinogenemia [PDF]
Indian Pediatrics Case Reports, 2023 Background: Congenital fibrinogen disorder is a rare autosomal recessive blood coagulation disorder, where majority of patients present with bleeding, whereas a few may paradoxically develop thrombosis.
Arnab Ghorui +2 more
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A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family [PDF]
Haematologica, 2021 Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and ...
Michel Guipponi +9 more
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Congenital Afibrinogenemia With Facial Haematoma [PDF]
CureusCongenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial ...
Hassan, Mohsin +4 more
openaire +3 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
Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population [PDF]
Thrombosis Journal, 2019 Following the publication of this article [1], the authors noted the following typographical errors.
Arshi Naz +9 more
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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
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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
Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder [PDF]
The Indian Anaesthetists' Forum, 2015 Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
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