Proposed model. Under normal physiologic conditions, heme binds to EIF2AK1 and
represses its activation. In conditions that limit heme production, such as those
induced by SF3B1MT in terminally differentiated
erythroblasts, EIF2AK1 is activated. EIF2AK1 pathway activation promotes RS survival and
inhibits erythroid maturation by increasing the expression of ATF4, which in turn
upregulates the expression of genes involved in autophagy, transcriptionally inhibits
genes involved in heme biosynthesis and mitochondrial iron transport, and
translationally inhibits globin production. Targeting EIF2AK1 pathway activation by
depleting EIF2AK1 rescues erythroid differentiation and red blood cell production.