F8 genotype specific inhibitor risks in Argentine patients with severe HA and particular risk estimation of different mutation types.

LILIANA C. ROSSETTI; CLAUDIA P. RADIC; MIGUEL M. ABELLEYRO; VANINA D. MARCHIONE; IRUPE SZURKALO; LAURA PRIMIANI; DANIELA NEME; MIGUEL CANDELA; MIGUEL DE TEZANOS PINTO; CARLOS D. DE BRASI

Melbourne

Congreso; XXXI International Congress of the World Federation of Hemophilia (WFH).; 2014

World Federation of Hemophilia (WFH).

Haemophilia A (HA) is an X-chromosome inherited disorder associated with deleterious mutations in the coagulation factor VIII gene (F8). The development of inhibitory antibodies is a serious complication that occurs in 15-30% of patients with severe HA in response to replacement therapy with FVIII. Version 2012 of the WFH Global Annual Survey (WFH, Annual Survey, 2013) informed that 286 out of 2075 people with HA presented with clinically identified inhibitors in Argentina, indicating the significance of their comprehensive characterization in our patients. Both genetics and non-genetics factors have been implicated to influence inhibitor formation (Astermark, 2006). Among patient?s genetics, several studies have shown that the type and location of the haemophilia causative mutation is the most decisive risk factor for inhibitor formation (Oldenburg et al, 2002). This study describes a comprehensive and multicentre countrywide F8 genotype characterization study of Argentine patients with HA and inhibitors using a cost-effective laboratory scheme, particularly useful for developing countries. The analysis between the type and location of F8 mutation allows us to associate specific HA patients with locally estimated inhibitor risks