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Congenital factor XIII deficiency: two case reports.

H P Pati1, V P Choudhry, L S Arya

  • 1Department of Haematology, All India Institute of Medical Sciences, New Delhi.

The Journal of the Association of Physicians of India
|April 1, 1991
PubMed
Summary

This report details two cases of factor XIII deficiency, a rare bleeding disorder. Early diagnosis via clot solubility testing is crucial for effective prophylactic management.

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Area of Science:

  • Hematology
  • Coagulation Disorders
  • Rare Diseases

Background:

  • Factor XIII deficiency is a rare inherited bleeding disorder.
  • Patients often present with severe bleeding symptoms from birth.
  • Diagnosis can be challenging due to the rarity of the condition.

Observation:

  • Two patients with factor XIII deficiency and a lifelong bleeding disorder were identified.
  • Clinical presentation included symptoms consistent with severe coagulopathy.

Findings:

  • Factor XIII deficiency was confirmed through diagnostic testing.
  • Clot solubility in 5 M urea is a key screening test for this disorder.
  • The condition is often overlooked without specific screening.

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Implications:

  • Prompt diagnosis of factor XIII deficiency is essential for patient care.
  • Prophylactic management strategies are available and effective.
  • Implementing routine screening can improve detection rates for bleeding disorders.