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: September 30, 2020 08:36 AM
Learn more about
Beta Thalassemia Intermedia
Beta thalassemia intermedia is a form of beta thalassemia that causes moderate to severe anemia. It is the second most severe form after beta thalassemia major.
Beta thalassemia impacts two different types of genes. When these genes are damaged or missing, it can cause beta thalassemia.
Beta Thalassemia Trait (Minor)
A person with beta thalassemia minor has less severe symptoms than beta thalassemia major but can still pass along the genes to their children.
Blood and Marrow Transplantation
The transplantation of blood or bone marrow is the procedure of transferring and replacing the hematopietic stem cells.
Chronic Transfusion Therapy/Hypertransfusion Therapy
Chronic transfusion therapy is a form of blood transfusion that is repeated on a “chronic,” or regular, basis.