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A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family

Fager Ferrari, Marcus LU ; Leinoe, Eva ; Rossing, Maria ; Norström, Eva LU and Zetterberg, Eva LU (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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; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Blood Coagulation and Fibrinolysis
volume
31
issue
7
pages
481 - 484
publisher
Lippincott Williams and Wilkins
external identifiers
  • 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
2020-10-22 07:40:20
@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&gt;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 and 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},
}