International registry on factor XIII deficiency: a basis formed mostly on European data

Ivaskevicius, V; Seitz, R; Kohler, HP; Schroeder, V; Muszbek, L; Ariens, RA; Seifried, E; Oldenburg, J; Study, Group (2007). International registry on factor XIII deficiency: a basis formed mostly on European data. Thrombosis and haemostasis, 97(6), pp. 914-921. Stuttgart: Schattauer 10.1160/TH07-01-0034

Full text not available from this repository. (Request a copy)

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 ( 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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Thromboselabor Kinderklinik [discontinued]

UniBE Contributor:

Kohler, Hans-Peter and Schröder, Verena










Factscience Import

Date Deposited:

04 Oct 2013 14:56

Last Modified:

07 Jan 2020 13:25

Publisher DOI:


PubMed ID:


Web of Science ID:


URI: (FactScience: 46617)

Actions (login required)

Edit item Edit item
Provide Feedback