Which type of mutation results in the alteration of hemoglobin in sickle cell disease?

The type of mutation that results in the alteration of hemoglobin in sickle cell disease is a missense mutation. In the context of genetics, a missense mutation occurs when a single nucleotide change results in the coding of a different amino acid in a protein.

In sickle cell disease specifically, there is a substitution of the amino acid valine for glutamic acid at the sixth position of the beta-globin chain of hemoglobin. This single amino acid change alters the properties of hemoglobin, leading to the production of abnormal hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS tends to polymerize, causing red blood cells to become deformed into a sickle shape, which can lead to various complications such as vaso-occlusive crises.

This specific alteration is critical in understanding the pathology of sickle cell disease and highlights the impact of a missense mutation on protein function. It is key to recognizing the correct terminology and implications associated with this type of genetic alteration.