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Author Spotlight: Time and Cost-Effective Fibrinogen-PAGE for Fibrinogenolytic Studies
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Pseudohomozygous dysfibrinogenemia.

Rachel C Peck1, Lucy Fitzgibbon1, Christopher Reilly-Stitt2

  • 1School of Cellular and Molecular Medicine University of Bristol Bristol UK.

Research and Practice in Thrombosis and Haemostasis
|August 30, 2021
PubMed
Summary
This summary is machine-generated.

Hypodysfibrinogenemia (HD) involves reduced fibrinogen. Genetic analysis reveals a distinct subtype, pseudohomozygous dysfibrinogenemia, caused by biallelic gene variants, presenting unique clinical features.

Keywords:
afibrinogenemiableedingfibrinogen deficiencyhypodysfibrinogenemia

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Hypodysfibrinogenemia (HD) is characterized by reduced plasma fibrinogen antigen and function, often discordant.
  • Distinguishing subtypes of HD is crucial for understanding its heterogeneous nature.

Observation:

  • This study investigated whether genetic analysis can subclassify patients with HD.
  • A new case and eight previously documented cases with HD laboratory features were analyzed.
  • These cases exhibited biallelic inheritance of quantitative and qualitative fibrinogen gene variants.

Findings:

  • The coinherited variants predict reduced levels of dysfunctional circulating fibrinogen.
  • Patients presented with both bleeding and thrombosis, and sometimes undetectable fibrinogen activity.
  • This pattern suggests a distinct subtype of recessively inherited HD.

Implications:

  • The findings propose a new term, 'pseudohomozygous dysfibrinogenemia,' for this subtype.
  • This classification aids in differentiating recessively inherited HD from common monoallelic forms.
  • Understanding this genetic subtype can inform clinical management and genetic counseling for HD patients.