关键词: 遗传性无纤维蛋白原血症；　FGA基因；　基因突变

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.

Key words: 　congenital fibrinogenemia;　FGA gene;　gene mutation