A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome

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Science Translational Medicine  10 Jul 2019:
Vol. 11, Issue 500, eaav5467
DOI: 10.1126/scitranslmed.aav5467

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Myelodysplastic syndromes are clonal disorders of hematopoiesis with a variety of manifestations and potential complications. One category of myelodysplastic syndromes, those associated with ring sideroblasts, is known for causing iron overload even in the absence of transfusions, but the reasons for this are unclear. Bondu et al. discovered that a variant form of erythroferrone, a hormone that helps regulate bone marrow function, is produced in this disorder and results in deregulation of iron loading through suppression of the hormone hepcidin. Moreover, the variant erythroferrone is not present in healthy bone marrow cells, indicating its potential utility as a biomarker of clonal hematopoiesis.