Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate


KADER Ş., MUTLU M., Acar F. A. , ASLAN Y., BAHADIR A.

BLOOD COAGULATION & FIBRINOLYSIS, vol.29, no.5, pp.476-480, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 5
  • Publication Date: 2018
  • Doi Number: 10.1097/mbc.0000000000000748
  • Journal Name: BLOOD COAGULATION & FIBRINOLYSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.476-480
  • Karadeniz Technical University Affiliated: Yes

Abstract

ObjectiveHerein, a neonate with congenital FVII deficiency is presented.Basic methodDiagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina).ResultOur patient was found to have a novel homozygous mutation.ConclusionEarly diagnosis and treatment of congenital FVII deficiency can be crucial.