Thalassemia as a common molecular and genetic condition
DOI:
https://doi.org/10.35381/s.v.v6i3.2272Keywords:
Thalassemia, anemia, hemoglobinopathy. (Source, DeCS).Abstract
Objective: To elucidate how mutations in the genotype are associated with the intensity of the clinical manifestations of thalassemias. Method: The information was collected using the SciELO, Scopus and Google Scholar databases. Of the 31 published articles and available books, between 2017 and 2022. Results and conclusions: Based on our literature review, we have been able to conclude that the intensity of the clinical manifestations depends on which mutation is expressed, and that the clinical variants are related to the underlying molecular defects. In the genetic context, several disorders have been described that have aroused scientific interest, one of them is the thalassemias, which have been shown to be a pathology with a high incidence and serious clinical development; within its classification, beta-thalassemia has been described as the most severe presentation.
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