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Congenital hypofibrinogenemia with a novel mutation BβCys76Phe
Motoki Sugasaki1, Shingen Nakamura2, Shinpei Arai3
1Department of Medical Technology, Tokushima University Hospital, Tokushima, Japan.
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.
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