betaglobins

Betaglobins are a type of protein that are a crucial component of hemoglobin. Hemoglobin is the protein found in red blood cells responsible for transporting oxygen from the lungs to the rest of the body. Specifically, hemoglobin in adults, known as hemoglobin A, is composed of two alpha-globin chains and two beta-globin chains. The beta-globin chains are encoded by the HBB gene, located on chromosome 11 in humans. Variations or mutations in the HBB gene can lead to a range of genetic disorders collectively known as hemoglobinopathies, the most common of which is beta-thalassemia. Beta-thalassemia results from reduced or absent production of beta-globin chains, leading to impaired hemoglobin synthesis and consequently, anemia. Another significant condition related to beta-globin is sickle cell disease, caused by a specific mutation in the HBB gene that results in an abnormal beta-globin chain. This abnormal protein causes red blood cells to become rigid and sickle-shaped, leading to various complications. The study of betaglobins is fundamental to understanding oxygen transport and genetic blood disorders.