Sickle-cell disease is a genetic disorder that results from the abnormal structure of red blood cells. The peculiar shape of the red blood cell prevents the normal absorption of oxygen. This disease results from the abnormal production of hemoglobin S (HbS). Therefore, a mutation in this gene causes a lower supply of oxygen to the cells, which results in occlusion of the blood vessels. Individuals diagnosed with sickle-cell anemia have abnormal function of the gene that encodes for subunit B, which is a protein that serves as part of the hemoglobin A (HbA). The HbA is responsible for oxygen binding through the blood stream. Indeed, the abnormal polymerization of hemoglobin occurs in homozygous individuals with sickle-cell anemia, which lowers the oxygen supply of red blood cells. To lower the negative consequences of sickle-cell anemia, it is necessary to provide a better understanding of the genetic material that underlies the sub-phenotype of sickle-cell anemia. Therefore, this could help in the discovery of drugs that could target the genes responsible for sickle-cell anemia.
Genetic mutation and sickle-cell anemia
Sickle-cell disease is a commonly known genetic disorder that puts the life at risk of millions of people across the world. This disorder can be classified as a monogenic disorder that results from …show more content…
Furthermore, analyzing the association between genotype and phenotype could help in identifying genetic modifiers. Moreover, the whole genome sequencing project has many promising insights in terms of identifying and analyzing the genetic modifiers of sickle-cell disease (Steinberg et al., 2012). In this paper, we will investigate the main triggering factors of sickle-cell anemia, diagnostic process, and treatment