دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family.
المؤلفون: Fager Ferrari M; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Leinoe E; Department of Hematology., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Norström E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Zetterberg E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden.
المصدر: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2020 Oct; Vol. 31 (7), pp. 481-484.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams And Wilkins Country of Publication: England NLM ID: 9102551 Publication Model: Print Cited Medium: Internet ISSN: 1473-5733 (Electronic) Linking ISSN: 09575235 NLM ISO Abbreviation: Blood Coagul Fibrinolysis Subsets: MEDLINE
أسماء مطبوعة: Publication: London : Lippincott Williams And Wilkins
Original Publication: Oxford, UK : Rapid Communications of Oxford Ltd., c1990-
مواضيع طبية MeSH: Afibrinogenemia/*genetics , Fibrinogen/*genetics, Adult ; Female ; Humans ; Sweden
مستخلص: : 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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المشرفين على المادة: 9001-32-5 (Fibrinogen)
تواريخ الأحداث: Date Created: 20200828 Date Completed: 20210414 Latest Revision: 20210414
رمز التحديث: 20240628
DOI: 10.1097/MBC.0000000000000951
PMID: 32852326
قاعدة البيانات: MEDLINE
الوصف
تدمد:1473-5733
DOI:10.1097/MBC.0000000000000951