Please enable JavaScript.
Coggle requires JavaScript to display documents.
Beta Thalassemia - Coggle Diagram
Beta Thalassemia
-
-
-
-
-
Pathophysiology
Beta thalassemia is a genetic disorder where the production of beta-globin chains, is reduced or absent due to mutations in the HBB gene. This leads to an imbalance with excess alpha-globin chains, which damage red blood cells and cause their premature destruction -> chronic anemia, with ineffective red blood cell production and potential complications like organ damage from iron overload and skeletal deformities due to extramedullary hematopoiesis.
Definition
Inherited disorder caused by a point mutation that decreases the synthesis of β-globin chains.