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Thromb Haemost 2007; 97(06): 914-921
DOI: 10.1160/TH07-01-0034
Blood Coagulation, Fibrinolysis and Cellular Haemostasis
Schattauer GmbH

International Registry on Factor XIII Deficiency: A basis formed mostly on European data

Vytautas Ivaskevicius
1   Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany
,
Rainer Seitz
2   Paul-Ehrlich-Institute, Langen, Germany
,
Hans P. Kohler
3   Laboratory for Thrombosis Research, Department of Clinical Research, Inselspital, University Hospital of Bern, Bern, Switzerland
,
Verena Schroeder
3   Laboratory for Thrombosis Research, Department of Clinical Research, Inselspital, University Hospital of Bern, Bern, Switzerland
,
Laszlo Muszbek
4   Clinical Research Center, Haemostasis, Thrombosis and Vascular Biology Research Group of the Hungarian Academy of Sciences, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
,
Robert A. S. Ariens
5   Academic Unit of Molecular Vascular Medicine, General Infirmary, Leeds, United Kingdom
,
Erhard Seifried
6   Institute for Transfusion Medicine and Immunohaematology, Red Cross Blood Donor Service Baden-Wuerttemberg- Hessen, Frankfurt, Germany
,
Johannes Oldenburg
1   Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany
7   The Study Group*
,
and The Study Group › Institutsangaben
Weitere Informationen

Publikationsverlauf

Received 19. Januar 2007

Accepted after revision 06. März 2007

Publikationsdatum:
27. November 2017 (online)

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Summary

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.

Keywords

FXIII deficiency - phenotyping - genotyping - International FXIII Registry

* A list of the Study Group members can be found in the appendix.


 

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