University Clinic Bonn Institute of Experimental Haematology and Transfusion Medicine Director: Prof. Dr. Johannes Oldenburg
FXIII Phenotype / Genotype Registry

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 reseach on protein and gene defects and their relation to clinical symptoms.

In year 2005, the ISTH FXIII subcommittee supported our initiative to enlarge the data of ETRO Working Party aiming the development of an international registry including clinical, phenotypic and genotypic data.

This registry so far includes 104 questionnaire patients (56 females and 48 males) out of 88 families from 14 countries (Table 1). Summarized statistics are given for severity of bleeding symptoms (figure 1), sites of bleeding (figure 2), impaired wound healing (figure 3), treatment modality (figure 4) and mutation profile (figure 5).