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Article

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

Pediatric blood & cancer - 1 Jan 2008

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

Abstract excerpt

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.

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Identifiers

PMID: 16456856
DOI: 10.1002/pbc.20786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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