Genetic cause and therapy of sickle cell disease

Abstract

Sickle cell disease (SCD) is an influential genetic disorder on a global scale. The sickle cell population has been a large collective in recent years. Vaso-occlusion, membrane injury, and cardiovascular complications were discovered to result from its presence. There is currently no treatment that can completely cure SCD. Using a method of literature review, this paper discusses the history, pathology, and potential treatments. A point mutation of the sixth amino acid in the -hemoglobin gene (HBB) is the genetic etiology of sickle cell disease. The replacement of glutamic acid with valine reduces the oxygen-carrying capacity of erythroid. Even though the cause of SCD is evident, the treatments, including blood transfusion, hydroxyurea, gene-editing, and GBT440 agent therapy, are still uncertain. Further research and testing are required to reduce the morbidity of SCD, and additional efforts are required to increase the rate of SCD cure.