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

From the Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina de Buenos Aires, Argentina (LCR, CPR, MC, RPB, MdTP, IBL, CDDB); Division of Genomic Medicine, University of Sheffield Medical School, Sheffield, UK (AG)

Correspondence: Liliana C. Rossetti, Departamento de Genética, Academia Nacional de Medicina. Pacheco de Melo 3081, Cdad. de Buenos Aires (1425), Argentina. E-mail: rossetti{at}hematologia.anm.edu.ar

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.

Key words: F8, HEMA, severe phenotype, mutation characterization.

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