IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
F8 genotype characterisation of the first Argentine series of patients with mild haemophilia A: notable prevalence of recurrent mutations.
Autor/es:
ABELLEYRO M.M.; NEME D.; RADIC C.P.; SÁNCHEZ-LUCEROS A.; ROSSETTI L.C.; MARCHIONE V.D.; RODRIGUEZ R.; DE BRASI C.D.
Lugar:
Mar del Plata
Reunión:
Congreso; Reunión Conjunta LXIII Sociedad Argentina de Investigación Clínica (SAIC) - LXVI Sociedad Argentina de Inmunología (SAI) ? Sociedad Argentina de Fisiología (SAFIS) 2018.; 2018
Institución organizadora:
Sociedad Argentina de Investigación Clínica
Resumen:
Activity Type:SAIC-Sociedad Argentina de Investigación ClínicaThematic Area:Genetics -SAIC-SAFISTitle:F8 genotype characterisation of the first Argentine series of patients with mild haemophilia A: notable prevalence of recurrent mutations.Authors:Vanina Daniela Marchione1, Claudia Pamela Radic1, Miguel Martín Abelleyro1, Romina Mariel Rodríguez1, Analía Sánchez Luceros1,2, Daniela Neme3, Carlos Daniel De Brasi1,2, Liliana Carmen Rossetti1. Affiliation:1-IMEX-CONICET, Academia Nacional de Medicina 2-IIHEMA, Academia Nacional de Medicina (ANM) 3-Fundación de la Hemofilia Alfredo PavlovskyAbstract:Haemophilia A (HA) is the commonest X-linked coagulopathy caused by deleterious mutations in F8. Mild-HA associates with minor reduction in the clotting activity of factor VIII (FVIII:C) to 5-40 UI/dL. Perhaps due to their mild phenotype expression, mild-HA patients are rarely genotyped although they represent 35-40% of HA cases worldwide. The scarce published data indicate that mild-HA shows notable differences with severe-HA (FVIII:CA (n=3), the Dup13* (n=3) and a synonym change (n=2) (*reported with Italian origin). Non-recurrent mutations included 24 missense, an ins-del and two splicing defects. Our findings demonstrate that our practical approach is adequate to characterise the mild-HA-causative F8-genotype in patients and relatives, highlight the prevalence of missense defects in mild-HA (50/61, 82%) and indicate that the higher frequency assessed for recurrent mutations in mild-HA respect to severe-HA may reflect the higher mutational turnover of the severe-HA pool.