Haematologica (Jun 2007)

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

  • Liliana C. Rossetti,
  • Claudia Pamela Radic,
  • Miguel Candela,
  • Raúl Pérez Bianco,
  • Miguel de Tezanos Pinto,
  • Anne Goodeve,
  • Irene B. Larripa,
  • Carlos D. De Brasi

DOI
https://doi.org/10.3324/haematol.11112
Journal volume & issue
Vol. 92, no. 6

Abstract

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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.