title: A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
abstract: Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder, characterized by an inconsistent bleeding tendency, mainly associated with injury or surgery. Although most of the F11 gene mutations cause a true quantitative deficiency of FXI (cross-reacting material-negative, CRM-), very few variants characterized by a qualitative abnormality resulting in a discrepant FXI activity/FXI antigen ratio (CRM positive, CRM+) have been reported. We describe here a novel CRM+ mutation (His127Arg) identified in an asymptomatic woman from Indonesia and in her two sons.
authors.affiliation: Department of Cell Therapy and Hematology, Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Castaman
authors.forename: Sofia H
authors.initials: SH
authors.lastname: Giacomelli
authors.forename: Annarita
authors.initials: A
authors.lastname: Tagliaferri
authors.forename: Francesco
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008958:Models, Molecular; D020125:Mutation, Missense
chemical_list: D005172:Factor XI