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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Factor XIII deficiency diagnosis: Challenges and tools.

M Karimi1,2, F Peyvandi3, M Naderi4

  • 1Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

International Journal of Laboratory Hematology
|October 14, 2017
PubMed
Summary

Diagnosing Factor XIII deficiency (FXIIID), a rare bleeding disorder, is challenging. This report proposes an algorithm to improve diagnostic efficiency and prevent delayed diagnosis, especially in resource-limited settings.

Keywords:
FXIII assaysfactor XIIIfactor XIII deficiencyfactor XIII deficiency diagnosislaboratory assays

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Area of Science:

  • Hematology
  • Clinical Diagnostics
  • Genetic Disorders

Background:

  • Factor XIII deficiency (FXIIID) is a rare, inherited bleeding disorder caused by diverse mutations.
  • Standard coagulation tests often appear normal, complicating FXIIID diagnosis.
  • Diagnosis is particularly challenging in developing countries due to limited laboratory capabilities.

Purpose of the Study:

  • To provide an overview of diagnostic methods for FXIIID.
  • To suggest an algorithm for improving diagnostic efficiency.
  • To prevent missed or delayed diagnoses of FXIIID.

Main Methods:

  • Review of currently available assays for measuring FXIII activity (complexity, reliability, sensitivity, specificity).
  • Discussion of mutational analysis and FXIII inhibitor assays.
  • Evaluation of diagnostic tools, including clot solubility tests and quantitative FXIII activity assays.

Main Results:

  • Many labs lack quantitative FXIII activity assays; existing ones have limitations.
  • Clot solubility tests are insensitive and non-standardized but used in developing countries.
  • Improving test quality and considering centralized measurements are crucial.

Conclusions:

  • A proposed algorithm offers tailored diagnostic approaches based on laboratory capabilities.
  • Targeted genetic analysis for common mutations can aid diagnosis in specific regions.
  • Enhancing laboratory capacity is essential for accurate and timely FXIIID diagnosis worldwide.