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 offer a potential cure, but it requires a suitable donor and carries significant risks. Early diagnosis and management are crucial for improving quality of life.