Congenital hypofibrinogenemia with a novel mutation BβCys76Phe.

Abstract

Objective: Identified genetic mutation in the patient with unexplained decreased fibrinogen activity.

Methods: We conducted a detailed examination of the patient's fibrinogen activity level, antigen level, and genomic sequence.

Results: The patient's fibrinogen activity level was 80 mg / dL and the antigen level was 131 mg / dL. Upon sequencing of the fibrinogen gene, a novel heterozygous c.Bβ227G > T mutation was detected in Bβ-chain, which results in the cysteine residue at position 76 in exon 3 being converted to a phenylalanine residue.

Conclusions: This mutation reduces fibrinogen activity and antigen levels, but the pathophysiology of this mutation remains unclear. J. Med. Invest. 72 : 182-184, February, 2025.