Mutations are errors in DNA replication that result in alterations to a DNA sequence. They are the ultimate source of novel genetic variation. Mutations work by inserting, deleting, or changing a DNA base (for example, A to T). This alters how the DNA instruction manual is read and what proteins are produced. Depending on how the sequence is affected, mutations can be good, bad, or neutral to the organism.
Sickle cell disease is an autosomal recessive disease caused by a single mutation in an allele that codes for one of the polypeptide chains of the hemoglobin protein. Sickle cell disease is caused by an abnormal form of the protein hemoglobin, which is the protein that transports oxygen throughout the body in red blood cells.