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 (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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Thromboselabor Kinderklinik [discontinued] |
UniBE Contributor: |
Kohler, Hans-Peter, Schröder, Verena |
ISSN: |
0340-6245 |
ISBN: |
17549292 |
Publisher: |
Schattauer |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:56 |
Last Modified: |
05 Dec 2022 14:17 |
Publisher DOI: |
10.1160/TH07-01-0034 |
PubMed ID: |
17549292 |
Web of Science ID: |
000247309000007 |
URI: |
https://boris.unibe.ch/id/eprint/24063 (FactScience: 46617) |
Actions (login required)
 |
Edit item |