Research : Genetic diagnosis in haemostasis
Molecular genetic diagnosis of hereditary haemorrhagic and thromboembolic disorders
Daniel Delev, Christof Geisen, Effat Hosseini, Vytautas Ivaskevicius, Maria Lim-Eimer, Anni Pavlova, Matthias Watzka (Frankfurt)Clemens Müller- Reible , Jörg Schröder (Würzburg)
Protocols for the genetic analysis of most monogenetic haemorrhagic and thromboembolic disorders have been established in our group (Link to Directory of Services). So far 40 patients with factor XIII deficiency from all over Europe have been characterized, representing the largest patient cohort analysed at a single center. The phenotype of these patients are linked to bleeding, wound healing, abortion and myocardial infarction. In another cohort of 21 patients with factor VII deficiency 34 mutations could be found. In those families with heterozygous mutations the concomitant presence of polymorphisms led to the clinical manifestation of the bleeding.