2A Genetic Disease
Do you know that sickle cell anemia results from a mutation in a gene?
Yes! The gene is HBB responsible for containing the blueprint for cells for making part of a protein, hemoglobin. Let’s discuss the hemoglobin, a protein that is made up of two alpha and two beta chains.
Each chain of hemoglobin contains an iron-containing heme portion that gives red blood cells the color. Furthermore, it also allows the hemoglobin molecule for binding and then releases oxygen molecules.
However, the HBB gene mutation in sickle cell anemia also alters one of the amino acids that are the building blocks of proteins. It is happening in the beta chain of hemoglobin, and this defect also causes the hemoglobin protein to stick together for forming stiff fibers. Hence, these fibers alter the shape of the red blood cells to make them more fragile.