Deletion of alpha globin enhancer could treat beta thalassemia

In a paper published in Nature Communications, researchers at the University of Oxford and colleagues showed that deletion of the alpha globin MCS-R2 enhancer sequence (HBA-MCS-R2) reduced alpha globin (HBA) expression and corrected the imbalance between HBA and beta globin (HBB) in human cells, suggesting that targeting HBA could help treat beta thalassemia.

Previous studies suggested that excess alpha globin chains are the major determinant of the clinical severity of beta thalassemia. In patients with beta thalassemia, excess alpha chains can no longer pair with reduced beta chains to produce normal hemoglobin tetramers, causing hemolysis and ineffective erythropoiesis...