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Related Experiment Videos

Congenital factor XIII deficiency.

R H Merchant1, B R Agarwal, Z Currimbhoy

  • 1Division of Neonatology, B.J. Wadia Hospital for Children, Parel, Bombay.

Indian Pediatrics
|July 1, 1992
PubMed
Summary
This summary is machine-generated.

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Factor XIII deficiency, a rare bleeding disorder, presents with severe bleeding symptoms, including CNS bleeds. Early diagnosis and treatment are crucial for managing this inherited coagulation disorder.

Area of Science:

  • Hematology
  • Pediatric Hematology
  • Coagulation Disorders

Background:

  • Factor XIII deficiency is a rare inherited bleeding disorder.
  • Clinical presentation varies, often with severe bleeding complications.

Observation:

  • This study highlights clinical and hematological data from 9 cases of factor XIII deficiency.
  • Bleeding manifestations included umbilical bleeding, hematomas, and central nervous system (CNS) bleeds.
  • Routine coagulation tests were normal, but clot solubility in 5 molar urea was abnormal in all cases.

Findings:

  • Seven out of nine patients experienced umbilical bleeding.
  • Four patients had CNS bleeds, with three fatalities.
  • A high incidence of CNS bleeds (33%) is noted in cumulative Indian data for this disorder.

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Implications:

  • Highlights the diagnostic challenge of factor XIII deficiency due to normal routine coagulograms.
  • Emphasizes the critical risk of CNS bleeds and associated mortality.
  • Suggests the need for specific factor XIII assays and potentially prophylactic strategies.