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Beta-thalassemia is inherited genetic disorder characterized by ineffective erythropoiesis (IE), leading to anemia and abnormal iron metabolism. IE is as an abnormal expansion of the number of erythroid progenitor cells with unproductive synthesis of enucleated erythrocytes, leading to anemia and hypoxia. Anemic patients affected by beta-thalassemia (BT) suffer from iron overload, even in the absence of chronic blood transfusion, suggesting the presence of one or more erythroid factors with the ability to modulate iron metabolism and dietary iron absorption. Recent studies suggest that decreased erythroid cell differentiation and survival also contributes to IE, aggravating the anemia in BT. Furthermore, hypoxia can also affect and increase iron absorption. To understand the relationship between iron metabolism and IE could provide important insights into the BT condition and help to develop novel treatments. In fact, genetic or pharmacological manipulations of iron metabolism or erythroid cell differentiation and survival have been shown to improve IE, iron overload, and anemia in animal models of BT. Based on those findings, new therapeutic approaches and drugs have been proposed, and clinical trials are currently underway that have the potential to improve erythrocyte production as well as reduce the iron overload and organ toxicity in BT and in other disorders characterized by IE.
PMID: 30401707 [PubMed - as supplied by publisher]