| Revista: | Revista médica de Chile |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000449343 |
| ISSN: | 0034-9887 |
| Autors: | Díaz Matallana, Marcela1 Márquez Benítez, Yusselfy1 Martínez Lozano, Julio César2 Briceño Balcázar, Ignacio2 Benavides Benítez, Escilda3 Bernal, Jaime E3 |
| Institucions: | 1Universidad de Boyacá, Facultad de Ciencias de la Salud, Tunja, Boyacá. Colombia 2Universidad de La Sabana, Facultad de Medicina, Chía, Cundinamarca. Colombia 3Universidad del Sinú-Elías Bechara Zainúm, Facultad de Medicina, Cartagena de Indias. Colombia |
| Any: | 2021 |
| Volum: | 149 |
| Número: | 9 |
| Paginació: | 1322-1329 |
| País: | Chile |
| Idioma: | Español |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques |
| Disciplines | Medicina |
| Paraules clau: | Hematología, Diagnóstico, Genética, Anemia falciforme, Genotipos, Diagnóstico molecular |
| Keyword: | Hematology, Diagnosis, Genetics, Sickle cell anemia, Genotypes, Molecular diagnosis |
| Text complet: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
