title: International registry on factor XIII deficiency: a basis formed mostly on European data.
abstract: FXIII deficiency is known as one of the rarest blood coagulation disorders. In this study, the phenotypic and in part genotypic data of 104 FXIII-deficient patients recorded from 1993 - 2005 are presented. The most common bleeding symptoms were subcutaneous bleeding (57%) followed by delayed umbilical cord bleeding (56%), muscle hematoma (49%), hemorrhage after surgery (40%), hemarthrosis (36%), and intracerebral bleeding (34%). Prophylactic treatment was initiated in about 70% of all patients. FXIII-B subunit-deficient patients had a milder phenotype than patients with FXIII-A subunit deficiency. The most frequent mutation affecting the F13A gene was a splice site mutation in intron 5 (IVS5-1G>A). This mutation was found in eight (17%) of 46 analyzed families. The haplotype analysis of patients carrying the IVS5-1A allele was consistent with a founder effect. The international registry (http://www.f13-database.de) will provide clinicians and scientists working on FXIII deficiency with a helpful tool to improve patient care and direct future studies towards better understanding and treatment of the disease.
authors.affiliation: Institute of Experimental Haematology and Transfusion Medicine, University of Bonn, 53127 Bonn, German. vytautas.ivaskevicius@ukb.uni-bonn.de
authors.forename: Vytautas
authors.initials: V
authors.lastname: Ivaskevicius
authors.forename: Rainer
authors.initials: R
authors.lastname: Seitz
authors.forename: Hans P
authors.initials: HP
authors.lastname: Kohler
authors.forename: Verena
authors.initials: V
authors.lastname: Schroeder
authors.forename: Laszlo
authors.initials: L
authors.lastname: Muszbek
authors.forename: Robert A S
authors.initials: RA
authors.lastname: Ariens
authors.forename: Erhard
authors.initials: E
authors.lastname: Seifried
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
mesh_terms: D000022:Abortion, Spontaneous / Q000097:blood / Q000235:genetics; D000328:Adult; D001777:Blood Coagulation / Q000235:genetics*; D003029:Coagulants / Q000627:therapeutic use; D005060:Europe; D005176:Factor XIII / Q000235:genetics* / Q000378:metabolism; D005177:Factor XIII Deficiency / Q000097:blood / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes; D006470:Hemorrhage / Q000097:blood / Q000235:genetics*; D006801:Humans; D007391:International Cooperation; D020407:Internet; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012042:Registries; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D014945:Wound Healing / Q000235:genetics
chemical_list: D003029:Coagulants; D005176:Factor XIII