Beta thalassemia is a genetic disorder characterized by reduced or absent synthesis of the beta chains of hemoglobin, which leads to ineffective erythropoiesis (the process by which red blood cells are produced) and anemia. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body.
There are several types of beta thalassemia, including beta thalassemia major, beta thalassemia intermedia, and beta thalassemia minor, each with varying degrees of severity.
Beta thalassemia major, also known as Cooley’s anemia, is the most severe form. Individuals with beta thalassemia major require frequent blood transfusions and ongoing medical care to manage their condition. Without treatment, the disorder can lead to severe anemia, bone deformities, enlarged spleen, and other complications.
Beta thalassemia intermedia is a milder form of the disorder, with symptoms ranging from mild to moderate anemia. Individuals with beta thalassemia intermedia may not require regular blood transfusions but still need medical monitoring and management.
Beta thalassemia minor, also known as beta thalassemia trait, is the mildest form of the disorder. Individuals with beta thalassemia minor are carriers of the genetic mutation but typically do not experience any symptoms or require treatment. However, they can pass the genetic mutation on to their children.
Treatment for beta thalassemia may include blood transfusions, iron chelation therapy to remove excess iron from the body, folic acid supplements, and, in some cases, bone marrow transplantation. Gene therapy and other emerging treatments may offer hope for more effective management or even a cure in the future.