Establishment of an international registry of patients with congenital FXIII deficiency

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]. © 2007 Springer Verlag Berlin Heidelberg.