Overcoming erythropoiesis issues in sickle cell disease
Sickle cell disease is caused by a mutation in the gene encoding the beta-chain of haemoglobin, the oxygen carrier in our body. Under certain conditions, patients present with sickle-shaped irregular red blood cells that are sticky and can block the smaller blood vessels causing episodes of severe pain. The EU-funded InEr-SICKLE project will investigate the contribution of defective red blood cell production (erythropoiesis) to sickle cell disease severity. The focus will be on a critical red cell regulator, GATA1, as a target in alleviating sickle cell disease, by restoring normal erythropoiesis in these patients. Project results will generate important insight into the pathogenesis of sickle cell disease and may unveil novel therapeutic targets.