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

14 Citations (Scopus)

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

Fingerprint

Factor XIII Deficiency
Splenic Rupture
Spontaneous Rupture
Mutation
Nonsense Codon
Cerebral Hemorrhage
Genes

Keywords

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

ASJC Scopus subject areas

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

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

Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation. / Khalife, Hassan; Muwakkit, Samar; Al-Moussawi, Hayfa; Dabbous, Ibrahim; Khoury, Ruby; Peyvandi, Flora; Abboud, Miguel R.

In: Pediatric Blood and Cancer, Vol. 50, No. 1, 01.2008, p. 113-114.

Research output: Contribution to journalArticle

Khalife, H, Muwakkit, S, Al-Moussawi, H, Dabbous, I, Khoury, R, Peyvandi, F & Abboud, MR 2008, 'Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation', Pediatric Blood and Cancer, vol. 50, no. 1, pp. 113-114. https://doi.org/10.1002/pbc.20786
Khalife, Hassan ; Muwakkit, Samar ; Al-Moussawi, Hayfa ; Dabbous, Ibrahim ; Khoury, Ruby ; Peyvandi, Flora ; Abboud, Miguel R. / Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation. In: Pediatric Blood and Cancer. 2008 ; Vol. 50, No. 1. pp. 113-114.
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