Article
Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2009
Morange Pierre, Trigui Nawel, Frère Corinne, Chambost Hervé, Pouymayou Catherine, Uters Marion, Boucly Catherine, Juhan-Vague Irène, de Mazancourt Philippe
Abstract excerpt
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...
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