A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family
(2020) In Blood Coagulation and Fibrinolysis 31(7). p.481-484- Abstract
Fibrinogen is essential for normal hemostasis. Congenital fibrinogen disorders (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia and hypodysfibrinogenemia), caused by pathogenic variants in the genes FGA, FGB and FGG, have the potential of causing bleeding diathesis and/or thrombotic events of variable severity. We describe a case of familial hypofibrinogenemia in a Swedish family. The proband is a 27-year-old woman, with a history of significant bleeding diathesis. She was diagnosed with moderate hypofibrinogenemia (0.8 g/l), and genetic screening identified a rare heterozygous missense variant in FGB (c.854G>A, p.Arg285His) (Fibrinogen Merivale) previously described in a New Zealand European family with symptomatic... (More)
Fibrinogen is essential for normal hemostasis. Congenital fibrinogen disorders (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia and hypodysfibrinogenemia), caused by pathogenic variants in the genes FGA, FGB and FGG, have the potential of causing bleeding diathesis and/or thrombotic events of variable severity. We describe a case of familial hypofibrinogenemia in a Swedish family. The proband is a 27-year-old woman, with a history of significant bleeding diathesis. She was diagnosed with moderate hypofibrinogenemia (0.8 g/l), and genetic screening identified a rare heterozygous missense variant in FGB (c.854G>A, p.Arg285His) (Fibrinogen Merivale) previously described in a New Zealand European family with symptomatic hypofibrinogenemia. The father, sister and brother of the proband also harbored the FGB variant, segregating with hypofibrinogenemia (0.9-1.2 g/l). The proband showed a more severe bleeding phenotype compared with her other hypofibrinogenemic family members; this was attributed to a concomitant platelet dysfunction, also present in her normofibrinogenemic mother.
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- author
- Fager Ferrari, Marcus LU ; Leinoe, Eva ; Rossing, Maria ; Norström, Eva LU and Zetterberg, Eva LU
- organization
- publishing date
- 2020
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Blood Coagulation and Fibrinolysis
- volume
- 31
- issue
- 7
- pages
- 481 - 484
- publisher
- Lippincott Williams & Wilkins
- external identifiers
-
- scopus:85093706321
- pmid:32852326
- ISSN
- 1473-5733
- DOI
- 10.1097/MBC.0000000000000951
- language
- English
- LU publication?
- yes
- id
- 4bbe5967-9fdb-4b08-b3d2-a66ba7711081
- date added to LUP
- 2020-09-13 08:19:01
- date last changed
- 2024-09-05 06:07:43
@article{4bbe5967-9fdb-4b08-b3d2-a66ba7711081, abstract = {{<p>Fibrinogen is essential for normal hemostasis. Congenital fibrinogen disorders (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia and hypodysfibrinogenemia), caused by pathogenic variants in the genes FGA, FGB and FGG, have the potential of causing bleeding diathesis and/or thrombotic events of variable severity. We describe a case of familial hypofibrinogenemia in a Swedish family. The proband is a 27-year-old woman, with a history of significant bleeding diathesis. She was diagnosed with moderate hypofibrinogenemia (0.8 g/l), and genetic screening identified a rare heterozygous missense variant in FGB (c.854G>A, p.Arg285His) (Fibrinogen Merivale) previously described in a New Zealand European family with symptomatic hypofibrinogenemia. The father, sister and brother of the proband also harbored the FGB variant, segregating with hypofibrinogenemia (0.9-1.2 g/l). The proband showed a more severe bleeding phenotype compared with her other hypofibrinogenemic family members; this was attributed to a concomitant platelet dysfunction, also present in her normofibrinogenemic mother.</p>}}, author = {{Fager Ferrari, Marcus and Leinoe, Eva and Rossing, Maria and Norström, Eva and Zetterberg, Eva}}, issn = {{1473-5733}}, language = {{eng}}, number = {{7}}, pages = {{481--484}}, publisher = {{Lippincott Williams & Wilkins}}, series = {{Blood Coagulation and Fibrinolysis}}, title = {{A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family}}, url = {{http://dx.doi.org/10.1097/MBC.0000000000000951}}, doi = {{10.1097/MBC.0000000000000951}}, volume = {{31}}, year = {{2020}}, }