Clinical and genetic analysis of congenital afibrinogenemia: a case report

  • 张兴道,曹海燕,原新慧,等
Expand
  • Department of Pediatrics, The First Hospital of Lanzhou University, Lanzhou 730000, Gansu, China

Online published: 2020-02-03

Abstract

Objective To explore the clinical and genetic characteristics of congenital afibrinogenemia. Methods The clinical data of congenital afibrinogenemia in a child were analyzed and the related literature was reviewed. Results A boy had the main clinical manifestations of intermittent umbilical cord bleeding for 20 days. The whole exon sequencing revealed two heterozygous mutations on the FGA gene, c.744delG and c.364+1G>C, and the patient was diagnosed with congenital afibrinogenemia. Conclusion Congenital fibrinogenemia is rare, and whole exon sequencing is helpful for early diagnosis.

Cite this article

张兴道,曹海燕,原新慧,等 . Clinical and genetic analysis of congenital afibrinogenemia: a case report[J]. Journal of Clinical Pediatrics, 2019 , 37(12) : 920 . DOI: 10.3969/j.issn.1000-3606.2019.12.011

Outlines

/