Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects

Hemophilia A (HA) is caused by heterogeneous mutations in the factor VIII gene (F8). This paper reports 16 novel small F8-mutations and rearrangements in a series of 80 Argentinian families with severe-HA. Using an updated scheme for F8-analysis, we found 37 F8-inversions (46%), 10 large deletions (13%), 13 small ins/del (16%), 7 nonsense (9%) and 8 missense mutations (10%), including 4 new ones (p.T233K, p.W1942R, p.L2297P and p.L2301S). The potential changes leading to severe-HA of these latter mutations were suggested by bioinformatics. The F8-mutation was characterised in 76 families (95%). They received genetic counselling and precise information about treatment design. ©2007 Ferrata Storti Foundation.

Palabras clave: F8 , Hema , Mutation Characterization , Severe Phenotype

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Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)

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URI: http://hdl.handle.net/11336/55955

DOI: https://dx.doi.org/10.3324/haematol.11112

URL: http://www.haematologica.org/content/92/6/842

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Articulos de INST.DE MEDICINA EXPERIMENTAL

Citación

Rossetti, Liliana Carmen; Radic, Claudia Pamela; Candela, Miguel; Pérez Bianco, Raúl; De Tezanos Pinto, Miguel; et al.; Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects; Ferrata Storti Foundation; Haematologica; 92; 6; 6-2007; 842-845

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