Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Hye In WooHee-Jin Kim

Abstract

Dysfibrinogenemia and factor VII (FVII) deficiency are rare congenital coagulopathies. In this report, the authors describe a man with both defects confirmed by molecular genetic tests. The patient was a 51-year-old man referred for prolonged prothrombin time (PT) that had been accidentally detected on preoperative screening. He had no history of bleeding tendency even on occasions of surgery. Routine coagulation studies revealed prolonged PT (1.53 INR) and thrombin time (42.2 s), and decreased fibrinogen level (57 mg/dl) and FVII activity (44%). Direct sequencing analyses were performed on FGA, FGB, and FGG genes to confirm dysfibrinogenemia and on the F7 gene to confirm FVII deficiency. As a result, the patient was shown to be heterozygous for a point mutation in exon 8 of the FGB gene (c.1475A > G, p.*492Trpext*12; Fibrinogen Magdeburg II) and for a missense mutation in exon 6 of the F7 gene (c.466G  > A, p.Gly156Ser). To our knowledge, this is the first report on a case of combined dysfibrinogenemia and FVII deficiency confirmed by molecular genetic tests.

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Citations

Sep 13, 2014·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Majid NaderiAkbar Dorgalaleh
May 1, 2018·International Journal of Laboratory Hematology·A WeiF Lin
Mar 26, 2021·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Seyed Esmaeil AhmadiShadi Tabibian
Aug 31, 2021·Haemophilia : the Official Journal of the World Federation of Hemophilia·Ming-Ching ShenMei-Hua Hung

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