Which statement describes Beta Thalassemia major?

Beta Thalassemia major, also known as Cooley anemia, is a severe form of beta thalassemia that results from mutations in the HBB gene, leading to reduced or absent production of beta globin chains. This condition causes significant anemia due to the ineffective erythropoiesis and hemolysis associated with the disorder. Patients with Beta Thalassemia major typically present with symptoms of anemia early in life, often within the first two years, necessitating frequent blood transfusions for management.

The term "Cooley anemia" is historically linked to the founder of this particular nomenclature, Dr. Thomas Cooley, who extensively studied this condition. Therefore, this designation is widely recognized in the medical community. Understanding this terminology is crucial for effective communication and education surrounding the condition.

In contrast, the other options do not accurately characterize Beta Thalassemia major. For instance, vitamin B12 supplementation is typically associated with megaloblastic anemia and is not a treatment relevant to this form of thalassemia. Diagnosis in early adulthood is more characteristic of beta thalassemia intermedia or other forms, as the major form is generally detected much earlier in life. Lastly, while patients with Beta Thalassemia major