In β-thalassemia, during terminal erythroid maturation, β-globin (HBB) gene mutations cause a buildup of free α-globin, which forms toxic intracellular precipitates, causing ineffective erythropoiesis and hemolysis. AMBRA1 missense mutations reduce ULK1-mediated autophagy of free α-globin and exacerbate β-thalassemia. Figure created with BioRender.com.

In β-thalassemia, during terminal erythroid maturation, β-globin (HBB) gene mutations cause a buildup of free α-globin, which forms toxic intracellular precipitates, causing ineffective erythropoiesis and hemolysis. AMBRA1 missense mutations reduce ULK1-mediated autophagy of free α-globin and exacerbate β-thalassemia. Figure created with BioRender.com.

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