Polimorfismos no gene da PDESA e suas implicações na ocorrência de Priapismo em pessoas com anemia falciforme

• Ano de defesa: 2024
• Autor(a) principal: Ferraz, Tarso Nascimbem
• Orientador(a): Mattos, Luiz Carlos de
• Banca de defesa: Silva, Danilo Grunig Humberto , Mattos, Cinara de Cássia Brandão
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Faculdade de Medicina de São José do Rio Preto
• Programa de Pós-Graduação: Programa de Pós-Graduação em Ciências da Saúde
• Departamento: Faculdade 1::Departamento 1
• País: Brasil
• Palavras-chave em Português: Anemia Falciforme; Priapismo; Polimorfismo Genético; Diester Fosfórico Hidrolases
• Palavras-chave em Inglês: Anemia, Sickle Cell; Priapism; Polymorphism, Genetic; Phosphodiestrases
• Área do conhecimento CNPq: CIENCIAS DA SAUDE::MEDICINA
• Link de acesso: http://bdtd.famerp.br/handle/tede/878

The occurrence of episodes of Priapism is one of the main complications in individuals who have Sickle Cell Anemia, often leading to irreversible sequelae. The classic mechanism of capillary interference by sickle cell erythrocytes cannot explain neither all cases in which Priapism occurs nor why some patients are protected from its occurrence. This led to several studies focusing on the mechanism of erection and penile detumescence aiming to finding possible associations between changes in this mechanism and the occurrence of episodes of priapism. Through this research, it was observed that changes in 5-phosphodiesterase (PDE5A), which lead to less production of nitric oxide, cause episodes of priapism in mice. Based on this principle, this study aimed to evaluate for the first time the association of the SNPs rs3733526 and rs12646525 of the phosphodiesterase type 5 gene (PDE5A) with priapism in 138 people with sickle cell anemia from the Hemocentro de Pernambuco - Recife/PE and also compare the groups in relation to data regarding fetal hemoglobin (Hb F), total hemoglobin (Hb), reticulocyte count (Ret), indirect bilirubin (BI), lactate dehydrogenase (LDH) and for the mutation for α-3.7kb- thalassemia. From the results obtained, there was no statistical difference between the priapism and control groups after genotypic comparison of the rs3733526 and rs12646525 mutations of the PDE5A gene, only the mutation for α-3.7kb- thalassemia was shown to be a protective factor for the occurrence of Priapism in men with sickle cell anemia.