HBBgeenimutaatio

HBBgeenimutaatio refers to a mutation within the HBB gene. The HBB gene, located on chromosome 11, provides instructions for making a protein called beta-globin. Beta-globin is a component of hemoglobin, the molecule in red blood cells that carries oxygen from the lungs to tissues throughout the body. Different types of mutations can occur in the HBB gene, including point mutations, deletions, and insertions. These alterations can lead to the production of abnormal or insufficient amounts of beta-globin protein.

The consequence of an HBB gene mutation is typically the development of a hemoglobinopathy, a disorder affecting hemoglobin. The most well-known and clinically significant condition resulting from HBB gene mutations is sickle cell disease. In sickle cell disease, specific mutations cause the beta-globin protein to misfold, leading to the formation of rigid, sickle-shaped red blood cells. These abnormal cells can block blood flow, causing pain, organ damage, and anemia. Other hemoglobinopathies, such as beta-thalassemia, are also caused by mutations in the HBB gene, where the production of beta-globin is reduced or absent, leading to reduced hemoglobin synthesis and anemia. The specific type and location of the mutation in the HBB gene determine the severity and type of the resulting disorder. Genetic testing can identify these mutations.