| Autor: |
Pelland‐Marcotte, Marie‐Claude, Avram, Adelina‐Teona, Néron, Hélène, Demers, Christine, Castilloux, Julie, Gauthier, Julie, Neerman‐Arbez, Marguerite, Casini, Alessandro, Rivard, Georges‐Etienne |
| Předmět: |
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| Zdroj: |
Haemophilia; May2024, Vol. 30 Issue 3, p858-861, 4p |
| Abstrakt: |
This article discusses a rare inherited blood coagulation disorder called fibrinogen storage disease (FSD). FSD is a subtype of hypofibrinogenemia, characterized by the accumulation and aggregation of mutant fibrinogen in hepatocytes. The article presents a case study of a large family from Quebec with a novel FGG missense variant associated with FSD. The clinical manifestations observed in affected family members include bleeding symptoms and thrombotic symptoms, with some individuals experiencing post-partum hemorrhage, epistaxis, and superficial vein thrombosis. The study also suggests incomplete penetrance of the FGG variant in some family members. [Extracted from the article] |
| Databáze: |
Complementary Index |
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