Congenital afibrinogenemia caused by homozygous frame-shift mutation of FGA gene c.1368delC: a case report and literature review

Congenital afibrinogenemia is mainly manifested by repeated bleeding, including umbilical cord bleeding, cyanogenesis, nose bleeding, gingival bleeding, spleen bleeding, liver bleeding, gastrointestinal or urogenital tract bleeding, etc. In this case, the patient suffered from recurrent bleeding and repeated hypofibrinogenemia after birth. Genetic screening and family verification of congenital afibrinogenemia suggested that the patient had nucleic acid mutation of FGA gene, c.1368delC homozygous frame-shift mutation and amino acid mutation p.T457Rfs*27. Both parents carried the heterozygous frame-shifting mutation. The patient developed pulmonary hemorrhage, but there were no related clinical symptoms and signs. After atomizing inhalation of budesonide formoterol powder twice in the morning and evening for 1 month, the pulmonary hemorrhage lesions were obviously absorbed.