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Revista médica de Chile · Sep 2021
[Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia].
- Marcela Díaz-Matallana, Yusselfy Márquez-Benítez, Julio César Martínez-Lozano, Ignacio Briceño-Balcázar, Escilda Benavides-Benítez, and Jaime E Bernal.
- Facultad de Ciencias de la Salud, Universidad de Boyacá, Tunja, Colombia.
- Rev Med Chil. 2021 Sep 1; 149 (9): 1322-1329.
AbstractSickle 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.
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