Influência dos moduladores genéticos nos níveis de hemoglobina fetal na anemia falciforme: revisão literária

Abstract

Sickle cell anemia is a disease of genetic origin in which the individual has chronic hemolysis and pain crises resulting from vaso occlusion. It is caused by a failure in the synthesis of the molecular structure of hemoglobin, more specifically in the 6th codon of the beta-globin gene (HBB) on chromosome 11, with the exchange of the glutamic acid amino acid for valine. In addition, alterations in genes that are not related to synthesis of globin chains, such as genes related to fetal hemoglobin synthesis, can modulate the clinical picture of patients and, thus, determine whether the individual will have milder or more severe forms of the disease. The aim of this study was to carry out a literary and systematic review of the influence of KLF genes in modulating the clinical picture of patients with sickle cell anemia. The selected literature was taken from scientific databases such as Google Academic, Scielo, Pubmed and Mayo Clinic Proceedings in the period between 2001 and 2021, with some exceptions. The evaluation of the works used in the development of this systematic review revealed the importance of the KLF, BCL11A and HBS1L-MYB genes in the regulation of fetal hemoglobin and the clinical picture of patients with sickle cell anemia. This fact reinforces the real need for an in-depth study of the genes involved for better care and more adequate therapeutic management of these patients, ensuring an increase in the quality of life of patients with sickle cell anemia.