O gene SPHK1 como potencial influenciador na modulação clínica de pacientes com anemia falciforme: uma revisão

Abstract

Sickle cell disease (SCD) comprise a set of hereditary conditions of great importance given the high number of people worldwide who bear the burden of such diseases. Among these, the one that stands out the most is sickle cell anemia (SCA), disorder of homozygous nature caused by a mutation of the beta-globin gene that has the morphologic alteration of the erythrocytes as consequence, a process where the cells acquire the sickle shape that the disease’s name refers to. The impact of the erythrocytes sickling varies between patients; it may cause several complications such as osteonecrosis, priapism, stroke and pulmonary hypertension. Despite being a monogenic disease, SCA marked by great clinical heterogeneity among patients, which can be attributed to the influence of genetic modulators. Substantial advancements are happening in the field of treatment for sickle cell diseases, with new drugs being developed and new, promising alternatives like gene therapy being explored. The goal of this review was to compile relevant information about the behavior of sickle cell anemia and its characteristics, in addition to offering a perspective of the possible influence of the SPHK1 gene as a modulator for the disease severity. This review revealed the existence of evidence that shows that erythrocyte membrane molecules, such as Sphk1, can indeed influence the pathophysiology of sickle cell anemia, therefore also affecting the patients clinical situation and their prognosis, as well as offering alternatives for new therapeutic targets.