Thalassemia major, also known as Cooley's anemia or Mediterranean anemia, is a severe inherited blood disorder characterized by the abnormal production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body, and in thalassemia major, the body produces an insufficient amount of this protein.
This condition occurs due to a genetic mutation that affects the synthesis of globin chains, which are the building blocks of hemoglobin. As a result, individuals with thalassemia major experience chronic anemia, where the red blood cells are unable to effectively carry oxygen, leading to fatigue, weakness, and shortness of breath.
Thalassemia major typically presents early in childhood, with symptoms appearing within the first two years of life. The severity of the disorder can vary, but in most cases, individuals require lifelong medical management, specifically regular blood transfusions, to maintain adequate levels of red blood cells and hemoglobin.
Additionally, thalassemia major can result in complications such as skeletal abnormalities, enlarged spleen, jaundice, slowed growth and development, and an increased susceptibility to infections. Without proper treatment, this condition can be life-threatening.
Although thalassemia major cannot be cured, advancements in medical treatments, such as bone marrow transplantation and iron chelation therapy, have significantly improved outcomes for affected individuals, allowing them to live relatively normal lives with proper management and support.
