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 Spanish
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Anemia, Sickle Cell
Type of study:
Diagnostic study
/
Risk factors
Limits:
Humans
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2021
Type:
Article
Affiliation country:
Colombia
Institution/Affiliation country:
Universidad de Boyacá/CO
/
Universidad de La Sabana/CO
/
Universidad del Sinú/CO
Similar
MEDLINE
...
LILACS
LIS