Sickle Cell Mutation Test - Sickle Cell Anemia Mutation Test (HBB) C.20A>T

The sickle cell anemia mutation test (HBB gene, c.20A>T) is a molecular genetic test that aims to detect a specific point mutation (adenine-thymine substitution at position 20 of exon 1) in the beta-globin (HBB) gene on chromosome 11. This mutation is responsible for the production of hemoglobin S (HbS) instead of normal hemoglobin A. When an individual inherits two copies of the mutated gene (homozygous), sickle cell anemia develops, while inheriting one copy (heterozygous) results in a sickle cell trait.