Final answer:
The sickle hemoglobin mutation is a missense mutation that results in the production of hemoglobin S, causing red blood cells to become sickle-shaped. It is an autosomal recessive genetic disorder affecting individuals carrying two copies of the mutated gene.
Step-by-step explanation:
The sickle hemoglobin mutation is a type of missense mutation. This mutation leads to the production of an abnormal form of hemoglobin known as hemoglobin S, which causes red blood cells (erythrocytes) to assume a sickle or crescent shape. The mutation occurs due to the substitution of a single nucleotide in the DNA sequence of the beta-globin gene, which results in the incorrect placement of the amino acid valine instead of glutamic acid in the hemoglobin protein.
Sickle cell anemia is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene, one from each parent, to exhibit symptoms of the disease. Individuals with one normal gene and one mutated gene have sickle cell trait and usually do not show symptoms. The sickling of cells can cause problems such as blocked blood flow, pain, organ damage, and increased susceptibility to infection.