title: Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation.
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.
authors.affiliation: Children's Cancer Center of Lebanon and Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: Hassan
authors.initials: H
authors.lastname: Khalife
authors.forename: Samar
authors.initials: S
authors.lastname: Muwakkit
authors.forename: Hayfa
authors.initials: H
authors.lastname: Al-Moussawi
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Dabbous
authors.forename: Ruby
authors.initials: R
authors.lastname: Khoury
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.forename: Miguel R
authors.initials: MR
authors.lastname: Abboud
mesh_terms: D002648:Child; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000150:complications / Q000235:genetics*; D006474:Hemorrhagic Disorders / Q000150:complications; D006801:Humans; D008297:Male; D009154:Mutation; D012422:Rupture, Spontaneous; D013161:Splenic Rupture / Q000209:etiology*
chemical_list: D005176:Factor XIII