title: Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A.
abstract: We report the case of a patient with mild haemophilia A, due to a Tyr2105Cys mutation in exon 22 of the C1 domain, who developed a high-titre factor VIII inhibitor (maximum titre 1600 BU) with recurrent severe haemorrhages and fatal intracranial bleeding. Based on published data, it appears that although this mutation occurs rarely in patients with mild or moderate haemophilia A, it is frequently associated with the development of high-titre inhibitors.
authors.affiliation: Servizio di Immunoematologia e Trasfusione-Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy. massimo.franchini@azosp.vr.it
authors.forename: M
authors.initials: M
authors.lastname: Franchini
authors.forename: D
authors.initials: D
authors.lastname: Girelli
authors.forename: O
authors.initials: O
authors.lastname: Olivieri
authors.forename: G
authors.initials: G
authors.lastname: Castaman
authors.forename: G
authors.initials: G
authors.lastname: Lippi
authors.forename: G
authors.initials: G
authors.lastname: Poli
authors.forename: G L
authors.initials: GL
authors.lastname: Salvagno
authors.forename: G
authors.initials: G
authors.lastname: Tagariello
authors.forename: A
authors.initials: A
authors.lastname: Giuffrida
authors.forename: M
authors.initials: M
authors.lastname: de Gironcoli
authors.forename: M
authors.initials: M
authors.lastname: Morfini
authors.forename: E
authors.initials: E
authors.lastname: Berntorp
authors.forename: G
authors.initials: G
authors.lastname: Gandini
mesh_terms: D019774:Blood Coagulation Factor Inhibitors / Q000097:blood*; D002543:Cerebral Hemorrhage / Q000209:etiology; D005091:Exons; D005169:Factor VIII / Q000037:antagonists & inhibitors / Q000235:genetics* / Q000276:immunology; D017809:Fatal Outcome; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006801:Humans; D007518:Isoantibodies / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors
chemical_list: D019774:Blood Coagulation Factor Inhibitors; D007518:Isoantibodies; D005169:Factor VIII