What is beta thalassemia characterized by?

Beta thalassemia is characterized by decreased synthesis of beta-globin chains. This genetic disorder results from mutations in the HBB gene that encodes for beta-globin, which is a component of hemoglobin. In individuals with beta thalassemia, the reduction or absence of beta-globin production leads to an imbalance in the ratio of alpha- to beta-globin chains. This imbalance results in ineffective erythropoiesis and hemolysis, causing anemia.

The clinical manifestations of beta thalassemia also reflect this deficiency, as individuals may experience symptoms of anemia, fatigue, and pallor, while laboratory tests may reveal reduced hemoglobin levels and an elevated fetal hemoglobin (HbF) level due to the relative excess of alpha-globin chains. This understanding of beta thalassemia helps in diagnosing and managing the condition effectively.