Beta Thalassemia Major
Also known as: Cooley’s anemia.
What is beta thalassemia?
Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues in the body).
What causes beta thalassemia major?
Beta thalassemia is an inherited (from parents) genetic disease. It is more common in Mediterranean (Italian or Greek), African or Southeast Asian peoples. Is caused by a mutation in the beta chain of the hemoglobin molecule. How these genes are altered determines the specific type of beta thalassemia.
What is beta thalassemia major (Cooley’s Anemia)?
Both (two) beta thalassemia genes are absent, because it is inherited from both parents who are missing one of the two genes.
What are the symptoms of beta thalassemia?
Symptoms appear early in life with various degrees of anemia requiring blood transfusions for survival. (Thalassemia Intermedia is a mild form of thalassemia major).
What are beta thalassemia care options?
Blood transfusions and chelation are the main treatments. Complications such as heart failure and diabetes are treated as needed. The only cure is bone marrow transplantation which is now considered standard of care. Gene therapy will be a curative therapy and will be coming available soon.
Reviewed by: Athena C Pefkarou, MD
This page was last updated on: July 05, 2022 01:49 PM