A Genetic Challenge: Understanding the Molecular Basis, Clinical Spectrum, and New Therapeutic Avenues for Managing Alpha Thalassemia
Alpha Thalassemia is an inherited blood disorder caused by the reduced or absent synthesis of the alpha globin chains of hemoglobin, leading to various degrees of anemia and potential organ damage due to ineffective red blood cell production. The condition's severity is directly linked to the number of alpha globin genes that are deleted or mutated, ranging from a silent carrier state to the severe, often fatal, hemoglobin Bart's hydrops fetalis.
Effective patient care requires careful monitoring, sometimes necessitating regular blood transfusions and iron chelation therapy to prevent complications from iron overload, a common side effect of frequent transfusions. The group discussion can delve into the latest advancements in gene therapy and prenatal diagnosis as future strategies for prevention and long-term curative treatment of this challenging genetic disorder.