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.
Highlights
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
Terapia génica Según una revisión sistemática realizada por Olowoyeye & Okwundu (2012)[51], se llevaron a cabo búsquedas de ensayos experimentales que utilizaran este enfoque de reemplazo de genes defectuosos para obtener hemoglobina con genes normales en el tratamiento de la anemia falciforme
Summary
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. Todos los individuos con hemoglobina S presentan la misma mutación, la cual va acompañada por otras mutaciones en la región del cromosoma 11, conocidas como grupo de la globina beta (“beta globin cluster”), lo que origina distintos polimorfismos.
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