MediAI

Keywords: Beta-thalassemia , thalassemia imaging features , hemoglobinopathy diagnosis , bone marrow expansion radiology , iron overload MRI , thalassemia treatment , prognosis of beta-thalassemia Introduction Beta-thalassemia is a hereditary, quantitative hemoglobin disorder resulting from mutations in the beta (β)-globin gene , leading to reduced or absent synthesis of β-globin chains and consequent ineffective erythropoiesis, chronic anemia, and compensatory bone marrow expansion. This condition represents one of the most common monogenic diseases globally with high carrier prevalence in populations historically exposed to malaria (Mediterranean, Middle Eastern, South and Southeast Asia). Pathophysiology of Beta-Thalassemia Beta-thalassemia is caused by mutations in the HBB gene on chromosome 11 that impair β-globin production. These may include point mutations affecting transcription, splicing, or translation of the gene. The degree of β-globin deficien...