International registry of factor XIII dediciency: 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

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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 (IVS5-1 G>A).This mutation was found in eight (17%) of 46 analyzed families.The haplotype analysis of patients carrying the IVS5-1 A 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.

Original languageEnglish
Pages (from-to)914-921
Number of pages8
JournalThrombosis and Haemostasis
Volume97
Issue number6
DOIs
Publication statusPublished - Jun 1 2007

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Keywords

  • FXIII deficiency
  • Genotyping
  • International FXIII registry
  • Phenotyping

ASJC Scopus subject areas

  • Hematology

Cite this

Ivaskevicius, V., Seitz, R., Kohler, H. P., Schroeder, V., Muszbek, L., Ariens, R. A. S., Seifried, E., & Oldenburg, J. (2007). International registry of factor XIII dediciency: A Basis formed mostly on European data. Thrombosis and Haemostasis, 97(6), 914-921. https://doi.org/10.1160/TH07-01-0034