Genetic Sickle Cell Analysis - Sickle Cell Anemia Mutation Test (HBB) C.19G>A

The sickle cell anemia mutation test (HBB gene, c.19G>A) is a molecular genetic test designed to detect a common point mutation responsible for the production of hemoglobin S (HbS). This mutation (adenine substitution of guanine at position 19 of exon 1 of the beta-globin gene) results in the substitution of glutamic acid for valine at position 6 of the beta-globin chain (p.Glu6Val). This alteration is the direct cause of the sickle-shaped red blood cells that appear under conditions of hypoxia, leading to sickle cell disease or carrier state.