HBBgenen

The HBB gene, also known as the beta-globin gene, is located on chromosome 11 and plays a crucial role in the production of hemoglobin. Hemoglobin is a protein found in red blood cells responsible for transporting oxygen from the lungs to the rest of the body. The HBB gene contains the instructions for making the beta-globin chain, one of the two types of protein chains that make up hemoglobin in adults. Specifically, an adult hemoglobin molecule, HbA, consists of two alpha-globin chains and two beta-globin chains.

Mutations in the HBB gene can lead to a group of inherited blood disorders collectively known as hemoglobinopathies. The most well-known of these is sickle cell anemia, caused by a specific mutation in the HBB gene that results in the production of an abnormal beta-globin chain. This abnormal chain causes red blood cells to become rigid and sickle-shaped under certain conditions, leading to various health problems. Other conditions associated with HBB gene mutations include beta-thalassemias, which are characterized by reduced or absent production of beta-globin chains, leading to insufficient hemoglobin and anemia. Genetic testing can identify mutations in the HBB gene, aiding in diagnosis and genetic counseling for individuals and families affected by these conditions.