Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Introduction: Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre.

Materials And Methods: Results of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.

Analysis of von Willebrand Disease in the "Heart of Europe".

 von Willebrand disease (VWD) is a genetic bleeding disorder caused by defects of von Willebrand factor (VWF), quantitative (type 1 and 3) or qualitative (type 2). The laboratory phenotyping is heterogenic making diagnosis difficult.  Complete laboratory analysis of VWD as an expansion of the previously reported cross-sectional family-based VWD study in the Czech Republic (BRNO-VWD) and Slovakia (BRA-VWD) under the name "Heart of Europe," in order to improve the understanding of laboratory phenotype/genotype correlation.

Inhibitors in Severe Hemophilia A: 25-Year Experience in Slovakia.

Unlabelled: We present 25-year experience with inhibitors in previously untreated patients (PUPs) with severe hemophilia A in Slovakia, where safe factor VIII (FVIII) concentrates have been used since 1990. A prospective study focused on inhibitor incidence in PUPs was established in 1997. Out of a total 61 PUPs born between January 1997 and October 2015, 59 were eligible for evaluation; 50 and 9 were treated with > 20 exposure days (ED) of plasma-derived FVIII (pdFVIII) and recombinant FVIII (rFVIII) products, respectively.

Challenges in the management of hemophilia B with inhibitor.

Development of factor IX (FIX) inhibitor is a rare but challenging complication in hemophilia B. In addition to inefficacy of specific replacement therapy, FIX inhibitors increase morbidity due to serious allergic reactions/anaphylaxis upon treatment with FIX. Limited experience with immune tolerance induction (ITI) shows a high risk of nephrotic syndrome development and poor ITI outcomes.