title: [Hemophilia B (factor IX deficiency) with concomitant factor XII degradation in a male crossbreed cat].
abstract: A male cat suffered from a severe haemorrhagic disorder manifesting as deep, partly infected cutaneous haematomas, enhanced and prolonged bleeding after injuries and subsequent lameness at several occasions. Bleeding resulted in severe anaemia with haematocrit falling to as low as 0.10 L/L. Haemophilia B was diagnosed based on factor IX deficiency with a functional residual activity of 5% and factor IX antigen of 8%, respectively. Additionally, factor XII activity was reduced to 32% of normal. The mutation 31217G==>A in exon 8 of the factor IX gene, predicting the amino acid exchange G366R was identified as the cause of moderate factor IX deficiency. This is the first mutation identified in cats with haemophilia B. Treatment was limited to local therapy and palliation, insufficient to prevent lethal outcome due to severe anaemia.
authors.affiliation: Institut für Klinische Chemie und Pathobiochemie, Otto-von-Guericke-Universität Magdeburg.
authors.forename: Gerd
authors.initials: G
authors.lastname: Lutze
authors.forename: Klaus
authors.initials: K
authors.lastname: Kutschmann
authors.forename: Katrin
authors.initials: K
authors.lastname: Fürst
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
mesh_terms: D000818:Animals; D001777:Blood Coagulation / Q000235:genetics; D002371:Cat Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D002415:Cats; D005164:Factor IX / Q000235:genetics; D005175:Factor XII Deficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D017809:Fatal Outcome; D002836:Hemophilia B / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D008297:Male; D009154:Mutation
chemical_list: D005164:Factor IX