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WFH 2012 World Congress

8-12 July, 2012 Paris, FRANCE

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Discussion forum - WFH 2012 World Congress Topic - Inhibitors Pathogenesis, Prevention and Treatment If you are already registered in PosterSessionOnline, enter your e-mail and click on LOGIN. Otherwise click on REGISTER.

Poster: 134
Visits: 533
Title: F8 genotype and not polymorphisms in IL10, TNFA and CTLA4 influences inhibitor development in Argentine patients with severe HA.
Authors: Liliana Rossetti , Claudia Radic, Johanna Zuccoli, Irupé Szurkalo, Martín Abelleyro, Lilian Franzi, Laura Primiani, Miguel Candela, Raúl Pérez Bianco, Miguel de Tezanos Pinto, Irene Larripa, Carlos De Brasi.
Centre: IMEX (CONICET-ANM). IHEMA (Academia Nacional de Medicina). Fundación de la Hemofilia.

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F8 GENOTYPE AND NOT POLYMORPHISMS IN IL10, TNFA AND CTLA4 INFLUENCES INHIBITOR DEVELOPMENT IN ARGENTINE PATIENTS WITH SEVERE HA.

Liliana Rossetti

Thread initiator
Subspeciality
Reg: 6/25/2012 5:15:00 PM

Comment# 1

Development of FVIII inhibitors (INH) is a severe treatment complication that affects 20 of patients with severe haemophilia A (HA). Both genetic and environmental factors have been implicated in inhibitor formation. The objective was to characterize genetic factors associated with inhibitors in Argentine patients with severe HA.We characterized the HA-causative mutation in 170 patients classified by INH status by application of a laboratory algorithm including inverse shifting-PCR for F8 inversions, 37 PCR-amplifications for gross deletion detection, and for small-mutation screening by CSGE, and DNA-sequencing. To explore other genetic factors, we studied DNA polymorphisms in the genes encoding for interleukin-10 (IL10) (-1082:A/G), tumour necrosis factor-alpha (TNFA) (-308:G/A), and cytotoxic T-lymphocyte antigen-4 (CTLA4) (-318:C/T) that have been implicated as inhibitor risk factors in other populations.An unbiased series of 119 Argentine patients with severe HA with an absolut

Comment added on 6/25/2012 5:15:00 PM


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