What is Beta Thalassemia Major? скачать в хорошем качестве

What is Beta Thalassemia Major?

Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains beta thalassemia major. Beta thalassemia major (aka Cooley’s anemia) is the most severe form of beta thalassemia. It is a genetic disorder involving the HBB gene that leads to reduced or absent synthesis of the beta-chains of hemoglobin. The rare disease is usually diagnosed in infancy with symptoms of severe anemia, failure to thrive and progressive pallor. Treatment usually involves regular transfusions to correct anemia and suppress erythropoiesis. Iron chelation is also a standard of care once persons have had 10-15 transfusions or when ferritin levels are above 1000 ng/ml. To learn more about this and other rare blood disorders, visit checkrare.com/diseases/blood-diseases/