Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation

Hassan Khalife, Samar Muwakkit, Hayfa Al-Moussawi, Ibrahim Dabbous, Ruby Khoury, Flora Peyvandi, Miguel R. Abboud

Research output: Contribution to journalArticle

Abstract

We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder.

Original languageEnglish
Pages (from-to)113-114
Number of pages2
JournalPediatric Blood and Cancer
Volume50
Issue number1
DOIs
Publication statusPublished - Jan 2008

Keywords

  • Clotting factor related research
  • Coagulation
  • Hemophilia and other bleeding disorders

ASJC Scopus subject areas

  • Cancer Research
  • Pediatrics, Perinatology, and Child Health
  • Hematology

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  • Cite this

    Khalife, H., Muwakkit, S., Al-Moussawi, H., Dabbous, I., Khoury, R., Peyvandi, F., & Abboud, M. R. (2008). Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation. Pediatric Blood and Cancer, 50(1), 113-114. https://doi.org/10.1002/pbc.20786