Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. Issue 5 (July 2018)

• Record Type: Journal Article
• Authors: Kader, Sebnem; Mutlu, Mehmet; Acar, Filiz Akturk; Aslan, Yakup; Bahadir, Aysenur
• Is Part Of: Blood coagulation and fibrinolysis. Volume 29:Issue 5(2018)
• Publication Date: 2018-07
• Subjects: congenital factor VII deficiency -- mutation -- neonate; Blood -- Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; Blood Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; 612.115
• DOI: 10.1097/MBC.0000000000000748
• Languages: English
• ISSNs: 0957-5235

Abstract

Abstract : Objective: Herein, a neonate with congenital FVII deficiency is presented. Basic method: Diagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina). Result: Our patient was found to have a novel homozygous mutation. Conclusion: Early diagnosis and treatment of congenital FVII deficiency can be crucial.