HBA2 encodes the alpha-2 globin chain, a critical component of adult hemoglobin. As part of the α-globin gene cluster on chromosome 16, HBA2 is essential for normal hemoglobin synthesis and oxygen transport 1. Mutations in HBA2 cause α-thalassemia, characterized by reduced or absent alpha-globin chain production, leading to severe anemia, microcytic hypochromic red blood cells, and transfusion dependence in severe cases 23. HbA2, the minor hemoglobin tetramer containing alpha and delta chains, normally comprises 2-3% of total hemoglobin and serves as a diagnostic marker for β-thalassemia carriers (elevated to 6-7%) 45. Notably, HbA2 prevents polymerization of deoxy-sickle hemoglobin, suggesting potential therapeutic value in sickle cell disease 4. HBA2 mutations show considerable phenotypic variability due to coinheritance with other globin gene defects 6. Clinical diagnosis relies on hemoglobin electrophoresis and molecular analysis 27. Recent advances in lentiviral vector-based gene therapy demonstrate promising restoration of α-globin expression and hemoglobin levels in alpha-thalassemia major 3.
No related genes found for this gene.