What genetic mutation is responsible for Hemoglobin C?

Hemoglobin C is caused by a specific point mutation in the beta-globin gene, which is part of the hemoglobin protein responsible for carrying oxygen in the blood. This mutation involves the substitution of an amino acid in the beta-globin chain, where glutamic acid is replaced by lysine at the sixth position of the beta-globin chain. This change alters the overall structure and function of the hemoglobin molecule, leading to the clinical manifestations associated with Hemoglobin C.

Understanding this, it is essential to note that mutations in other globin genes, such as alpha-globin, gamma-globin, or delta-globin, are not responsible for the development of Hemoglobin C. Such mutations would lead to different conditions related to hemoglobinopathies, such as alpha-thalassemia or other beta-globin disorders. The specificity of the genetic mutation to the beta-globin gene is key to identifying Hemoglobin C correctly.