Petr Smejkal

University Hospital Brno · Department of Clinical Hematology

The manuscript provides an overview of treatment and its changes in adult patients with haemophilia A without inhibitors in the Czech Republic between 2013 and 2021 using data from the registry of the Czech National Haemophilia Programme (CNHP). Over a 9-year period, we focused on the reduction in the annual bleeding rate (ABR), joint bleeding rate...

Background 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. Objectives Complete laboratory analysis of VWD as an expansion of the previously reported cross-sectional...

The next frontier in hemophilia A management has arrived. However, questions remain regarding the broader applicability of new and emerging hemophilia A therapies, such as the long-term safety and efficacy of non-factor therapies and optimal regimens for individual patients. With an ever-evolving clinical landscape, it is imperative for physicians...

Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency of the GPIb-IX-V complex also known as the von Willebrand factor (VWF) receptor. We investigated a fa...

The authors present clinical case of orthotopic liver transplantation for cirhosis due to chronic viral hepatitis C in a subject with severe hemophilia A. Preoperatively performed pharmacokinetic study with recombinant F VIII confirmed satisfactory in vivo recovery of 2.1 %. A bolus application of 52 units F VIII/kg body weight with target F VIII a...

Introduction: The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain Cys767-Cys808; Cys776-Cys804;Cys810-Cys821 form disulfide bridges be- tween two D’ trypsin-inhibitor-like (TIL’) and E’ regions, which are of critically importance for...

Background von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult. Objective A cross-sectional, family-based VWD study in a collaboration between University Hospital Br...

Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members. Using whole-exome sequencing of germline DNA samples, we identifie...

Background von Willebrand Disease (VWD) is an inherited bleeding disorder caused by quantitative (type 1, 3) or qualitative (type 2) von Willebrand factor (VWF) defect. VWD diagnosis and classification require numerous laboratory tests. VWF: Glycoprotein Ib (GPIb)‐binding activity assays are used to distinguish type 1 from type 2 VWD. Objectives T...

The European Clinical Laboratory and Molecular (ECLM) classification of von Willebrand disease (vWD) is based on the splitting approach which uses sensitive and specific von Willebrand factor (vWF) assays with regard to the updated molecular data on structure and function of vWF gene and protein defects. A complete set of FVIII:C and vWF ristocetin...

Viral hepatitis B still represents a major epidemiological issue worldwide. After recombinant vaccine administration, a titer of anti-HBs antibodies ≥ 10 IU/L has long been considered to be seroprotective. Persons without this antibody level after complete vaccination are referred to as non-responders. A progressive decline in anti-HBs levels over...

Unlabelled: Rituximab, a monoclonal antibody against the surface antigen of B-lymphocytes CD20 is beeing used in the treatment of numerous hematological, hematooncological and autoimmune disorders. After administration of ritu-ximab, quick and almost complete depletion of B-lymphocytes with the exception of pre-B-lymphocytes and plasma cells occur...

Pol&k P., Husa P., Smejkal P., Kamelander J., Chlupov^ G., Penka M.: Is it necessary to revaccinate against hepatitis B virus when the titer of anti-HBs drops below 10 IU/L? Viral hepatitis B still represents a major epidemiological issue worldwide. After recombinant vaccine administration, a titer of anti-HBs antibodies > 10 IU/L has long been con...

It is likely that every haematologist has in his care a patient with von Willebrand's disease. However, this disease is not always diagnosed in a patient and on the contrary the disease does not always require treatment. The author presents the fundamentals of the pathophysiology, diagnosis and treatment of this disease, pointing to some current an...

Acquired haemophilia A is a rare auto-immune disease caused by an inhibitory antibody to factor VIII. Patients with this disorder are at high risk of severe bleeding until the inhibitor has been eradicated. Management of this disorder consists in rapid accurate diagnosis, control of bleeding and eradication of the inhibitor by immunosuppression. Th...

Several studies suggest that recombinant activated factor VII (rFVIIa) is more cost-effective than plasma-derived activated prothrombin complex concentrate (pd-aPCC) in haemophilia with inhibitors. However, most do not consider differences between treated patients. This study compared the pharmacoeconomics of rFVIIa versus pd-aPCC treatment of mild...

Hemophilia is a rare hereditary disease with incidence of about 1 patient per 10 000 inhabitants. Caring for these patients is costly and is most effectively provided by specialized haemophilia centers. However every physician may encounter these patients in an acute situation or solve their chronic problems.

FEIBA (factor eight inhibitor by-passing activity) is used to achieve haemostasis in haemophiliacs with inhibitor. The aim of this study was to evaluate efficacy and consumption of the product in treatment of haemorrhages in haemophiliacs with factor VIII inhibitor, and determine factors that can influence the results of treatment. We used data fro...

Identifying haemophilia patients with inhibitors for clinical trials is difficult due to the limited number of patients available. Registries are therefore being established as an additional means of data collection. The aim of this study was to investigate the effect of different recombinant activated factor VII (rFVIIa; NovoSeven dose ranges and...

Haemophilia is a disease known from antiquity and always stirring significant expert and lay discussion. This is an infrequent disease that, nevertheless, is characterized by certain regularities that have rather unusual but often paradigmatic nature. Non-medical issues, at present in particular, are predominantly financial. It is, therefore, neces...

Hemophilia is the most spread hereditary bleeding disorder with severe bleeding symptoms. Although the number of hemophiliacs is below 0.1 per thousand in population, the care of these patients consumes a lot of financial expenditures, especially for treatment in appearance of inhibitor. Management of hemophilia is best provided by specialist in a...

The current trend in medicine is to sustain the possibility for necessary procedures to be performed in patients who suffer from haemostatic disorders which complicate eventual surgery. Among such disorders are congenital blood coagulation disorders, haemostatic disorders concomitant with other diseases and also therapies which affect haemostasis e...

The most of patients need dental care during their time of life. It can be situation to detect bleeding disorder in patients who have been suggested apparently healthy to this time. In patients with known bleeding tendency it can be situation in which good interdisciplinary coordination is necessary. In the most cases patients with anticoagulation...

Von Willebrand disease is the most spread hereditary bleeding disorder with prevalence up to the 1% in the population. Haemorrhagic symptoms are various intensity, mostly not severe. A large part of affected patients do not come to see a doctor. However these patients are potentially endangered by a serious haemorrhage after a trauma, surgery or du...

Chronic hepatitis C infection is a major problem among hemophiliacs who have been treated with plasma derived (pd) concentrates of factor VIII or IX (FVIII/IX) without antiviral treatment. In our country pdFVIII/IX concentrates have been used since beginning of the 1990’s. Until then, cryoprotein and fresh frozen plasma were infused. Recombinant FV...

Rare inherited coagulation disorders (RICDs) with a prevalence of ≤1/1,000,000 include deficiencies in factor II, factor V, combined factor V/factor VIII, factor X, factor XI and factor XIII. These abnormalities are associated with spontaneous haemorrhage and excessive bleeding after surgery or trauma. Management is complicated by limited informati...

Spontaneous and surgery-associated bleeding in patients with von Willebrand disease (vWD) cannot always be controlled with desmopressin or replacement therapy. This paper presents results on the use of recombinant-activated factor VII (rFVIIa) in patients with vWD included in the internet registry Haemostasis.com. Twenty-eight reports on the use of...

Coumarins belong to drugs widely used and the spectrum of their use is going to grow. From this point of view and/or because the coumarins are adminstrated in patients who are treated for the other diseases--medical or surgical--at the same time, it is necessary to modify, interrupt or replace peroral anticoagulant treatment in the dependence on va...

Chronic hepatitis C infection is very common among hemophiliacs in the developed World. Retrospective evaluation of the treatment results in hemophiliacs with chronic hepatitis C, all infected with genotype 1b. Twelve patients were treated with interferon-alpha monotherapy, 21 patients with interferon-alpha and ribavirin, and 3 patients with pegyla...

Iron is an ubiquitously ocurring vital element which can be found in all living cell from bacterias and yeast to mammals. The cells explore the redox potential of iron, which can be used in many essential and vital biochemical reactions. The iron homeostasis must be very finely tuned beacuse iron overload may lead to the generation of very toxic re...

In this prospective study, we described our first experience with non-invasive foetal RH genotyping in alloimmunised pregnancies by analysis of DNA extracted from maternal plasma samples by using real-time PCR and primers and probes targeted toward RHD and RHCE genes. We analysed 22 alloimmunised pregnant women (15 anti-D, 5 anti-D+C, 2 anti-E) wit...

Chronic infection with hepatitis C virus is very frequent among hemophilic patients in all developed counties, including the Czech Republic. Because of a possibility of developing serious terminal stages of infection, liver cirrhosis and hepatocellular carcinoma, the tendency in treatment of patients with chronic hepatitis C is to start it as soon...

Chronic hepatitis C infection is common among hemophiliacs in all the developed countries. Since 1996, only alpha-interferon (alpha-IFN) in monotherapy has been used for the treatment of chronic hepatitis C in hemophiliacs (6 patients). In Czech Republic a combination therapy with alpha-IFN and ribavirin has been used since 1999 (13 patients). Fina...

von Willebrand disease is an inherited bleeding disorders caused by mutations in the von Willebrand factor gene. We attempted to characterise the phenotype and the genotype in the first five families in Czech Republic affected by this heterogeneous disorder. The level of FVIII was measured by the one stage assay, the vWF:Ag by the immunoelectrophor...

Hereditary thrombocytopenias are a heterogeneous group of extremely rare diseases characterized by a reduced number of blood platelets and by bleeding tendency of variable severity. Some of these diseases are exclusive to platelets, while in others the pathology extends to other cell types. Although rare, hereditary thrombocytopenias should be cons...

The antiphospholipid syndrome is the most frequent acquired thrombophilia. However, not only thromboembolic events belong to possible clinical manifestations which are caused by antiphospholid antibodies presence. Patients could also suffer from pregnancy loss and/or wide spectrum of non-thromboembolic complications. The paper summarizes current tr...