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Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation
Author(s) -
Khalife Hassan,
Muwakkit Samar,
AlMoussawi Hayfa,
Dabbous Ibrahim,
Khoury Ruby,
Peyvandi Flora,
Abboud Miguel R.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20786
Subject(s) - medicine , mutation , complication , blood cancer , pediatrics , cancer , gene , genetics , biology
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. Pediatr Blood Cancer 2008;50:113–114. © 2006 Wiley‐Liss, Inc.