Anemia falciforme: una revisión sobre el genotipo de la enfermedad, haplotipos, diagnóstico y estudios asociados / Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia
Rev. méd. Chile
;
149(9): 1322-1329, sept. 2021.
Artículo
en Español
| LILACS
| ID: biblio-1389589
ABSTRACT
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Anemia de Células Falciformes
Tipo de estudio:
Estudio diagnóstico
/
Factores de riesgo
Límite:
Humanos
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
Colombia
Institución/País de afiliación:
Universidad de Boyacá/CO
/
Universidad de La Sabana/CO
/
Universidad del Sinú/CO
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