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Hemophilia in dogs and use of a dog as a model for analogous disease in human
Marvanová, Veronika ; Hofmanová, Barbora (advisor) ; Dokoupilová, Adéla (referee)
This compilation deals about hemophilia in dogs and options, how to apply findings obtained from studies on dogs to cure people. Hemophilia is suitable for research of modern healing methods, because it has been known for centuries and thanks to this its thoroughly researched. As a hereditary, sex-linked coagulation disorder, which is normally cured by replacement therapy, is hemophilia ideal model for examining the genetics determinants and nowadays it significantly helps in development of modern methods of treatment.
Hemophilia in dogs and humans is caused by gene mutation, which brings the absence or dysfunction of coagulation factor VIII or FIX. These factors in a healthy individual participates on coagulation cascade and on blood clot creation. Hemophilia mutations increase incidence of spontaneous hemorrhage, or hemorrhage after minor trauma, and patients suffer by hematomas, blood loss, dangerous internal bleeding, difficulties in movement and other related problems.
The fact, that hemophiliac dogs naturally occurs, in addition with possibility to compare them with people despite the differences in karyotype, because of binding to sex chromosome, and finally in connection with people desire to treat these dogs, just confirms that hemophilia in dogs is suitable for studying. This explain why dog models were involved in all significant discoveries in hemophilia treatment. For example, dogs assisted in development of replacement therapy with plasma and plasma concentrates, where studies confirmed safety and efficacy of these substances. Within recent years dog models enables safety transfer of gene therapy to human patients.
Thanks to these studies hemophilia possibly become the first genetically conditioned disorder, which would be permanently cured by gene therapy.
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