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

Vytautas Ivaskevicius; Rainer Seitz; Hans P. Kohler; Verena Schroeder; Laszlo Muszbek; Robert A. S. Ariens; Erhard Seifried; Johannes Oldenburg; and The Study Group

doi:10.1160/TH07-01-0034

Thrombosis and Haemostasis, Inhaltsverzeichnis

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

Autoren

Vytautas Ivaskevicius

¹Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany
Rainer Seitz

²Paul-Ehrlich-Institute, Langen, Germany
Hans P. Kohler

³Laboratory for Thrombosis Research, Department of Clinical Research, Inselspital, University Hospital of Bern, Bern, Switzerland
Verena Schroeder

³Laboratory for Thrombosis Research, Department of Clinical Research, Inselspital, University Hospital of Bern, Bern, Switzerland
Laszlo Muszbek

⁴Clinical 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

⁵Academic Unit of Molecular Vascular Medicine, General Infirmary, Leeds, United Kingdom
Erhard Seifried

⁶Institute for Transfusion Medicine and Immunohaematology, Red Cross Blood Donor Service Baden-Wuerttemberg- Hessen, Frankfurt, Germany
Johannes Oldenburg

¹Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany

⁷The Study Group*

and The Study Group

Abstract

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

Volltext

Referenzen

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