Reactivating embryonic ζ-globin rescues mouse model of severe α-thalassemia
A 2026 study by Liu, Higgs and colleagues showed that gene editing reactivates the silenced embryonic ζ-globin gene and rescues a mouse model of severe α-thalassemia until late development. They first mapped the cis-regulatory elements that keep ζ-globin silent in definitive erythroid cells. In a Hb Bart's hydrops fetalis syndrome model, embryos survived to embryonic day E17.5, a stage normally fatal. Primary erythroid cells taken from patients with HbH disease and BHFS produced ζ-globin at levels higher than those seen in the mouse, reaching amounts described as therapeutic.
The mouse and patient-cell data provide early preclinical evidence that could shape future therapies for individuals with severe HbH disease who rely on transfusions.
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