Beta-thalassemia major is a severe blood disorder caused by mutations in the HBB gene, which is responsible for producing beta-globin, a component of hemoglobin. Individuals with this condition have a significantly reduced ability to produce beta-globin, leading to a shortage of healthy red blood cells. This results in severe anemia, requiring regular blood transfusions for management. Symptoms of beta-thalassemia major typically appear in early childhood and may include fatigue, weakness, and pale skin. Over time, complications can arise, such as organ damage from iron overload due to frequent transfusions. Treatment options include blood transfusions, iron chelation therapy, and potentially bone marrow transplantation.