title: Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.
abstract: Genetic analysis was carried out in 37 Albanian patients with haemophilia A. The factor VIII intron 22 inversion was detected only in 2/19 (10.5%) apparently unrelated patients with severe haemophilia A, while the intron 1 inversion was absent. A total of 19 different gene mutations were identified. Ten mutations were novel: four null mutations in severe haemophilia A patients (Gln1090X, Cys1832X, 2374delT, 5676insT) and six missense mutations (five in severe haemophilia A) (Ile76Thr, Leu299Pro, Asp525Glu, Cys692Tyr, His1755Leu and Trp1835Cys). None of these novel mutations occurred at CpG hotspots. These results further emphasize the extreme heterogeneity of the molecular basis of haemophilia A. The low prevalence of intron 22 inversion in Albanian patients with severe haemophilia A should be addressed by further studies.
authors.affiliation: Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
authors.forename: G
authors.initials: G
authors.lastname: Castaman
authors.forename: S H
authors.initials: SH
authors.lastname: Giacomelli
authors.forename: R
authors.initials: R
authors.lastname: Ghiotto
authors.forename: C
authors.initials: C
authors.lastname: Boseggia
authors.forename: K
authors.initials: K
authors.lastname: Pojani
authors.forename: A
authors.initials: A
authors.lastname: Bulo
authors.forename: D
authors.initials: D
authors.lastname: Madeo
authors.forename: F
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D000415:Albania; D004252:DNA Mutational Analysis / Q000379:methods*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D005169:Factor VIII