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Hereditary dysfibrinogenaemia (fibrinogen Jena)--report of a family study

B Maak1

  • 1Childrens Hospital, University of Jena, GDR.

Folia Haematologica (Leipzig, Germany : 1928)
|January 1, 1988
PubMed

Insights

A rare fibrinogen variant, termed fibrinogen Jena, was identified in a family across three generations. This qualitative abnormality causes prolonged clotting times but no bleeding symptoms, suggesting autosomal-dominant inheritance.

Area of Science:

  • Hematology
  • Clinical Biochemistry
  • Genetics

Background:

  • Fibrinogen is a crucial protein for blood clot formation.
  • Qualitative fibrinogen abnormalities can impact hemostasis.
  • Diagnostic challenges arise from differing results across various fibrinogen assays.

Observation:

  • A 3.5-year-old boy presented with a qualitative fibrinogen abnormality.
  • Prolonged prothrombin time, thrombin time, and reptilase clotting times were observed.
  • Discordant results were noted between different fibrinogen assays.

Findings:

  • The fibrinogen variant, named fibrinogen Jena, was identified in 8 family members across 3 generations.
  • No history of bleeding or thrombotic events was reported in affected individuals.
  • The inheritance pattern appears to be autosomal-dominant.

Implications:

  • Fibrinogen Jena represents a novel qualitative fibrinogen defect.
  • Understanding this variant aids in diagnosing inherited bleeding disorders.
  • Autosomal-dominant inheritance suggests a significant genetic component.

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