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.
Article
in Es
| LILACS
| ID: biblio-1389589
Responsible library:
CL1.1
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Anemia, Sickle Cell
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
Es
Journal:
Rev. méd. Chile
Journal subject:
MEDICINA
Year:
2021
Type:
Article