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The phenotypic and genetic assessment of protein C deficiency

P C Cooper1, M Hill, R M Maclean

  • 1Sheffield Haemophilia and Thrombosis Centre, Sheffield, UK. peter.cooper@sth.nhs.uk

International Journal of Laboratory Hematology
|February 11, 2012
PubMed

Insights

Laboratory detection of protein C (PC) deficiency involves various methods. This study details PC testing approaches, highlighting the importance of genetic analysis for rare inherited defects.

Area of Science:

  • Hematology
  • Clinical Chemistry

Background:

  • Protein C (PC) deficiency diagnosis is complex due to age-related variations and acquired deficiencies.
  • Standard chromogenic assays may miss rare but significant PC deficiencies.

Purpose of the Study:

  • To outline laboratory methods for detecting and investigating protein C deficiency.
  • To discuss the utility of different assays and genetic analysis in diagnosing PC deficiency.

Main Methods:

  • Review of laboratory detection and investigation methods for protein C deficiency.
  • Discussion of chromogenic and coagulometric assay principles.
  • Highlighting the role of genetic analysis in confirming inherited PC deficiency.

Main Results:

  • Chromogenic assays are standard for thrombophilia screening but can be normal in some PC deficiency cases.
  • Coagulometric assays offer higher sensitivity for rare defects but may lack specificity.
  • Genetic analysis provides definitive diagnosis, distinguishing inherited from acquired deficiency.

Conclusions:

  • Laboratory diagnosis of protein C deficiency requires careful consideration of assay limitations.
  • Genetic testing is crucial for definitive diagnosis in suspected inherited protein C deficiency, especially in severe cases.
  • Interpretation of PC levels must account for physiological variations and acquired conditions.

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