Haemophilia: overview and perspectives on gene therapy.

Introduction: Hemophilia is a disease that affects coagulation, produced by the deficiency of factors VIII and IX, which predisposes to hemophilia A and hemophilia B respectively. Currently, the management of hemophilia is carried out by controlling bleeding, by means of the application of coagulation factors or application of prophylaxis. To improve the care of people with hemophilia, gene therapy has been developed as a long-term treatment, through the editing of mutated genes, increasing serum levels and their activity, reducing bleeding and therefore enhancing the quality of life of patients. Objective: To describe the principal characteristics of hemophilia and gene therapy as an alternate treatment. Materials and methods: A review of the literature in Spanish and English was carried out in the Elsevier and PubMed databases, with the use of keywords such as “Hemophilia A”, “Hemophilia B”, “Factor IX”, Factor VIII ”, "Coagulation". Conclusions: Over the years, new treatments have been developed that allow improving the quality of life of patients with hemophilia, which can ultimately cure the disease in a definitive way, such as gene therapy, through non-pathogenic virus vectors for humans, allowing the editing of affected genes, hence increasing serum levels of coagulation factors.

• Fecha de publicación: 2022
• Institución: Pontificia Universidad Javeriana Cali
• Repositorio: Vitela
• Idioma: spa
• OAI Identifier: oai:vitela.javerianacali.edu.co:11522/478
• Acceso en línea: https://revistas.javerianacali.edu.co/index.php/salutemscientiaspiritus/article/view/677; https://vitela.javerianacali.edu.co/handle/11522/478
• Palabra clave: Genética; Hemofilia A; Hemofilia B; Factor IX; Factor VIII; Coagulación; Terapia génica; Genetics; Hemophilia A; Hemophilia B; factor IX; Factor VIII; Coagulation; Gene therapy
• License: Derechos de autor 2023 Salutem Scientia Spiritus