Estudo de genes de resposta imune em pacientes com hemofilia

• Ano de defesa: 2009
• Autor(a) principal: Barros, Morgana Ferreira de
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Estadual de Maringá; Brasil; Departamento de Análises Clínicas e Biomedicina; Programa de Pós-Graduação em Biociências Aplicadas à Farmácia; UEM; Maringá, PR; Centro de Ciências da Saúde
• Palavras-chave em Português: Hemofilia; Polimorfismo genético; Biologia molecular; Imogenética; Ciências da Saúde; Farmácia
• Link de acesso: http://repositorio.uem.br:8080/jspui/handle/1/1900

Hemophilia is a disease caused by deficiency of blood coagulation factors. Of these, 80% of cases occur due to deficiency of factor VIII - Hemophilia A or classic and 20% of cases, deficiency of factor IX - hemophilia B. The treatment is based on the replacement of coagulation factors. However, in addition to infection with hepatitis and HIV, there is a more serious adverse event found in the treatment of hemophilia, the formation of inhibitors of Factor VIII and IX (less frequently). Inhibitors are alloantibodies, which bind the epitope of Factor VIII that are recognized by the immune system as foreign peptides. Some studies have suggested that genetic and environmental factors influence the development of FVIII inhibitors. The objective of this study was to review the influence of genetic and environmental factors that may be involved in the risk of inhibitor development, with the main focus, to identify immune response genes (HLA class I and II), which may be influencing the inhibitor formation in patients with hemophilia A in South Brazil. Were performed genotyping of Class I and II alleles an blood samples from patients with hemophilia A registered in the State of Paraná. The results were presented in article 1, "Influence of HLA Class I and II alleles on inhibitor development in hemophilia A patients from the South Brazil", and confirm that the HLA gene is involved in the production of the inhibitor and could be used as a tool to recognize high-risk groups for possible development of in hemophilia patients from the State of Paraná, South of Brazil. This study contributes to better understanding of the mechanisms involved in the production of inhibitors by some individuals and not by others.