title: [Gathering and evaluation of phenotype data of haemophilia A patients for correlation with genotype data].
abstract: Haemophilia A is caused by a genetic defect of the factor VIII gene resulting in complete or considerable functional loss of factor VIII molecule within blood. The high bleeding risk of patients can be prevented by intravenous injections of factor VIII protein. However, 25% of patients affected with severe haemophilia, develop factor VIII antibodies against the concentrate substituted. Within this study we try to comprise the phenotypic parameters (e. g. detailed documentation of disease course, basic laboratory values) and the therapy-associated data (e. g. applicated type and amount of factor VIII, number of substitutions, factor VIII recovery, inhibitor development and inhibitor elimination). We hope to identify differences of variable therapeutic treatments on course of disease as already identified for the factor VIII gene defects. At least we expect that certain mutations and mutation types, respectively, can be referred to typical phenotypes and similar course of treatment protocols.
authors.affiliation: Institut für Experimentelle Hämatologie und Transfusionsmedizin, Universität Bonn.
authors.forename: H-H
authors.initials: HH
authors.lastname: Brackmann
authors.forename: Th
authors.initials: T
authors.lastname: Albert
authors.forename: J
authors.initials: J
authors.lastname: Graw
authors.forename: J
authors.initials: J
authors.lastname: Oldenburg
authors.forename: W
authors.initials: W
authors.lastname: Schramm
authors.forename: R
authors.initials: R
authors.lastname: Schwaab
mesh_terms: D016208:Databases, Factual; D005169:Factor VIII / Q000008:administration & dosage / Q000235:genetics* / Q000627:therapeutic use; D005838:Genotype; D006467:Hemophilia A / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007256:Information Systems; D007275:Injections, Intravenous; D009154:Mutation; D010641:Phenotype
chemical_list: D005169:Factor VIII