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Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
ORPHA:98880Classification level: Subtype of disorder
Prevalence of afibrinogenemia is estimated at 1/1,000,000.
Common manifestations of afibrinogenemia include umbilical cord bleeding, epistaxis, hemarthrosis, gastrointestinal bleeding, menorrhagia, traumatic and surgical bleeding and, rarely, intracranial hemorrhage. Recurrent spontaneous abortions may occur.
The deficiency is due to various mutations in the FGA, FGB, or FGG genes.
Transmission is autosomal recessive.
A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)
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