Beta-Thalassemia Major
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 reduced ability to produce healthy red blood cells, leading to severe anemia, fatigue, and other health complications.
Treatment often involves regular blood transfusions and iron chelation therapy to manage excess iron in the body. In some cases, a stem cell transplant may be considered as a potential cure, especially in younger patients. Early diagnosis and management are crucial for improving quality of life.