目的　探讨遗传性无纤维蛋白原血症的临床特点及遗传学特征。方法　回顾分析1例遗传性无纤维蛋白原 血症患儿的临床资料，并复习相关文献。结果　男性患儿，出生后脐带间断渗血20天。全外显子测序发现FGA基因上存 在2个杂合突变c.744delG、c.364+1G>C，确诊为遗传性无纤维蛋白原血症。结论　遗传性无纤维蛋白原血症罕见，全外 显子测序有助于早期确诊。

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.