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Factor XIII deficiency in Pakistan

A N Shaikh1, M Khurshid

  • 1Department of Pathology, Aga Khan University Hospital, Karachi.

JPMA. the Journal of the Pakistan Medical Association
|April 1, 1993
PubMed
Summary
This summary is machine-generated.

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Factor XIII deficiency, a rare bleeding disorder, was identified in nine patients through routine screening. Consanguinity was noted in affected families, and patients experienced various bleeding symptoms, treated with plasma products.

Area of Science:

  • Hematology
  • Clinical Diagnostics
  • Genetic Disorders

Background:

  • Undiagnosed hemostatic defects pose significant clinical challenges.
  • Factor XIII deficiency is a rare inherited bleeding disorder affecting blood coagulation.
  • Routine screening tests are crucial for identifying hemostatic abnormalities.

Purpose of the Study:

  • To screen patients with suspected hemostatic defects.
  • To identify the prevalence and characteristics of factor XIII deficiency.
  • To analyze clinical features and familial patterns associated with factor XIII deficiency.

Main Methods:

  • Screening of patients with undiagnosed hemostatic defects over a 7-year period.
  • Utilized routine coagulation tests: bleeding time (BT), whole blood clotting time (CT), platelet count, activated partial thromboplastin time (APTT), prothrombin time (PT).

Related Experiment Videos

  • Employed the 5 molar urea test for specific diagnosis of factor XIII deficiency.

    • Main Results:

    • Nine patients tested positive for factor XIII deficiency via the 5 molar urea test.
    • Standard screening tests (BT, CT, platelet count, APTT, PT) were normal in these patients.
    • A high incidence of consanguinity was observed in families with factor XIII deficiency.

    Conclusions:

    • The 5 molar urea test is effective in diagnosing factor XIII deficiency when other routine tests are normal.
    • Factor XIII deficiency presents with diverse bleeding manifestations, including umbilical stump bleeding, bruising, epistaxis, melaena, and intracerebral bleeding.
    • Fresh frozen plasma and cryoprecipitate are effective treatments for factor XIII deficiency.