Care for patients with haemophilia and their families at The Institute of Haematology and Blood Transfusion in Prague

Česká verzia

Authors: I. Hrachovinová; P. Salaj
Authors place of work: Ústav hematologie a krevní transfuze Praha, ředitel prof. MUDr. Marek Trněný, CSc.
Published in the journal: Vnitř Lék 2012; 58(Suppl 2): 65-69
Category:

Summary

Beginning of the treatment of patients with hemophilia in IHBT (Institute of Hematology and Blood Transfusion) dates back to the 60th the last century. To date it was created a comprehensive care; from diagnostic to preventive and therapeutic. Diagnostic is concentrated in the NRL for hemostasis, there got all the available methodologies, protein and molecular-genetic. Therapeutic and preventive care is concentrated in the Center for Thrombosis and Hemostasis (CTH IHBT) and clinical departments of IHBT. In collaboration with orthopedic, surgical and other specialized clinics they provide care during invasive procedures. IHBT was appointed as one of the two CCC (Comprehensive Care Centers) for the diagnosis and treatment of adult patients with hemophilia in the Czech Republic. CTH is taking care about more than 200 patients with hemophilia A/B. One third of patients have a severe type of hemophilia. Part of the preventive care it is the active search for female carriers of hemophilia and the collaboration with centers of medical genetics in prenatal diagnosis of hemophilia. About half of the patients of Czech Republic with a complicated form of hemophilia – with the presence of F VIII/IX inhibitor are followed up in the center. CTH is also taking care about patients with acquired hemophilia A.

Key words:
hemophilia A/B – coagulation factor VIII/IX – F VIII inhibitor – carrier of hemophilia – mutations in gene for F VIII/FIX – substitutive treatment

Zdroje

1. Auerswald G, Salek SZ, Benson G et al. Beyond patient benefit: clinical development in hemophilia. Hematology 2012; 17: 1–8.

2. Habart D, Kalabova D, Hrachovinova I et al. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe hemophilia A in the Czech Republic. J Thromb Haemost 2003; 1: 1323–1324.

3. Habart D, Kalabova D, Novotny M et al. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J Thromb Haemost 2003; 1: 773–781.

4. Habart D, Kleibl Z, Hrachovinová I. Evaluation of DHPLC analysis for mutation detection in haemophilia A. Čas Lék Česk 2006; 145: 484–487.

5. Hrachovinová I, Vorlová Z. Detection of carriers of hemophilia B. Čas Lék Česk 1992; 131: 761–763.

6. Hrachovinová I, Vorlová Z. Identification of seven novel factor IX mutations in Czech hemophilia B patients. Blood 1997; 90: 96.

7. Krepelová A, Vorlová Z, Zavadil J et al. Factor VIII gene deletions in haemophilia A patients in Czechoslovakia. Br J Haematol 1992; 81: 271–276.

8. Salaj P, Gurlich R, Svorcová V et al. Prophylactic preparation and surgical extirpation of a very large abdominal blood cyst in a severe haemophilia A patient with inhibitors managed by rFVIIa. Haemophilia 2009; 15: 380–382.

9. Salaj P, Brabec P, Penka M et al. Effect of rFVIIa dose and time to treatment on patients with haemophilia and inhibitors: analysis of HemoRec registry data from the Czech Republic. Haemophilia 2009; 15: 752–759.

10. Salaj P, Penka M, Smejkal P et al. Economic analysis of recombinant activated factor VII versus plasma-derived activated prothrombin complex concentrate in mild to moderate bleeds: haemophilia registry data from the Czech Republic. Thromb Res 2012; 129: e233–e237.

11. Sikorová J, Zvárová J, Paluska E et al. Processing data for predicting hemophilia transmission. Vnitr Lek 1984; 30: 764–770.