Fibrinogen Mass Spectrometry: Hypofibrinogenaemia and Dysfibrinogenaemia

Diagnostic Use

Fibrinogen (Fb) mass spectrometry is useful in the diagnosis of Fb variants associated with familial hypofibrinogenaemia (quantitative Fb deficiency) and dysfibrinogenaemia (qualitative Fb deficiency).

Hypofibrinogenaemia is characterised by low antigenic Fb concentration (< 1.5 mg/mL) and can be caused by different Fb gene mutations. Mutations can affect transcription, mRNA processing, translation, polypeptide chain processing and assembly, export from the hepatocyte, or stability of the mature protein. Although heterozygosity for a mutation might reduce Fb levels below the normal range, they do not usually produce a significant clinical condition unless inherited in the homozygous, or compound heterozygous state. In this case, afibrinogenaemia may result and lead to a serious bleeding condition.

Classical dysfibrinogenaemia results from impairment of fibrin polymerisation. Dysfibrinogenaemia is associated with prolonged thrombin clotting times and low functional Fb but usually normal antigenic Fb concentration. Dysfibrinogenaemia is most likely caused by mutation in the region of the Fb gene that codes for functional domains involved in polymerisation.


Genetics - Molecular Pathology

Delphic Registration Code


Turnaround Time

4 weeks