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Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution

2009; Lippincott Williams & Wilkins; Volume: 20; Issue: 7 Linguagem: Inglês

10.1097/mbc.0b013e32832ee7eb

1473-5733

Pierre‐Emmanuel Morange, Nawel Trigui, Corinne Frère, Hérvè Chambost, Catherine Pouymayou, M. Uters, Catherine Boucly, I. Juhan‐Vague, Philippe de Mazancourt,

Cellular Mechanics and Interactions

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.