Establishment of an international registry of patients with congenital FXIII deficiency

V. Ivaskevicius, R. Seitz, H. P. Kohler, L. Muszbek, R. A.S. Ariens, E. Seifried, J. Oldenburg

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

FXIII deficiency is a rare autosomal recessive disorder affecting approximately 1 out of 1-3 million inhabitants. The disease is characterized by bleeding, impaired wound repair and spontaneous abortions in females. Extracellular FXIII molecule has a tetramer structure composing of two catalytic A-subunits and two B-subunits that act as a carrier molecules. Based on genotype there are two types of FXIII deficiency: A-subunit deficiency when mutation affects F13A gene and much rarely Bsubunit deficiency when mutation affects F13B gene [1]. In 1993, the ETRO Working Party on factor XIII initiated a Europe-wide questionnaire on congenital FXIII deficiency with several aims: 1. establish a patient registry 2. join a study group 3. accumulate and exchange informations on symptoms, diagnostic approach, and treatment 4. stimulate research on protein and gene defects and their relation to clinical symptoms [2].

Original languageEnglish
Title of host publication36th Hemophilia Symposium Hamburg 2005
PublisherSpringer Berlin Heidelberg
Pages302-304
Number of pages3
ISBN (Print)3540367144, 9783540367147
DOIs
Publication statusPublished - Dec 1 2007

ASJC Scopus subject areas

  • Medicine(all)

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    Ivaskevicius, V., Seitz, R., Kohler, H. P., Muszbek, L., Ariens, R. A. S., Seifried, E., & Oldenburg, J. (2007). Establishment of an international registry of patients with congenital FXIII deficiency. In 36th Hemophilia Symposium Hamburg 2005 (pp. 302-304). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-36715-4_59