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A novel fibrinogen variant--Praha I: hypofibrinogenemia associated with gamma Gly351Ser substitution

Roman Kotlín1, Martina Chytilová, Jirí Suttnar

  • 1Institute of Hematology and Blood Transfusion, Praha, Czech Republic. kotlinr@uhkt.cz

European Journal of Haematology
|March 3, 2007
PubMed
Abstract

Insights

A genetic mutation, fibrinogen gammaG351S, caused hypofibrinogenemia in a young man, leading to abnormal bleeding. Despite the mutation, his fibrin clot formation and function appeared normal.

Area of Science:

  • Hematology
  • Genetics
  • Biochemistry

Background:

  • Hypofibrinogenemia, characterized by low fibrinogen levels, can cause bleeding disorders.
  • Genetic mutations are a known cause of inherited hypofibrinogenemia.

Observation:

  • A 25-year-old male presented with abnormal bleeding and low fibrinogen levels.
  • Genetic analysis revealed a heterogeneous fibrinogen gammaG351S mutation in the patient.
  • Mass spectrometry indicated the mutant fibrinogen chain was not expressed in circulation.

Findings:

  • The identified fibrinogen gammaG351S mutation was linked to the patient's hypofibrinogenemia.
  • Despite the mutation, the patient's fibrin polymerization, fibrinopeptide release, and clot structure were normal.
  • The mother, with normal fibrinogen levels, did not carry the mutation.

Implications:

  • This case highlights the importance of genetic identification in diagnosing hypofibrinogenemia.
  • Understanding the impact of specific fibrinogen mutations is crucial for predicting bleeding risk.
  • Further research may elucidate the precise mechanisms by which this mutation affects fibrinogen levels without compromising clot function.

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