title: Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution.
abstract: A congenital FXIII A subunit deficiency was diagnosed in a male child because of umbilical bleeding at birth. Venous infusion was difficult and prophylactic FXIII infusion was delayed. At age 1, he suffered a spontaneous intracranial haemorrhage. Substitutive FXIII was initiated, and at age 12, no other significant bleeding event had occurred. His 5 years younger brother also bears the same FXIII deficiency. The younger brother's treatment was initiated at birth and never discontinued, and no bleeding occurred. Mutation gene analysis found a homozygous four bases insertion predicting a stop codon seven residues after PRO675. Antigen assay indicated that the mutant molecule is secreted. This case highlights the importance of prophylactic FXIII infusion.
authors.affiliation: Laboratoire d'Hématologie-Hémostase, CHU Timone, Marseille, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Morange
authors.forename: Nawel
authors.initials: N
authors.lastname: Trigui
authors.forename: Corinne
authors.initials: C
authors.lastname: Frère
authors.forename: Hervé
authors.initials: H
authors.lastname: Chambost
authors.forename: Catherine
authors.initials: C
authors.lastname: Pouymayou
authors.forename: Marion
authors.initials: M
authors.lastname: Uters
authors.forename: Catherine
authors.initials: C
authors.lastname: Boucly
authors.forename: Irène
authors.initials: I
authors.lastname: Juhan-Vague
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005176:Factor XIII / Q000627:therapeutic use*; D005177:Factor XIII Deficiency / Q000188:drug therapy / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011292:Premedication / Q000379:methods*; D035781:Siblings
chemical_list: D005176:Factor XIII