Abstract: The invention relates to the domain of anemia, iron overload and myeloid malignancy. The inventors identify a variant transcript of ERFE specific of SF3B1MUT MDS that contributes to increased concentration of ERFE protein leading to hepcidin suppression and iron accumulation in patients. This transcript contains an in-frame added intronic sequence of 12 nucleotides not inducing a stop codon that may be translated into a variant protein with an additional 4 amino acids. By using deep mass spectrometry, they identified a peptide corresponding to the added polypeptide VPQF (SEQ ID NO: 5) demonstrating the active production of a variant protein by bone marrow erythroblasts of patients with a SF3B1-mutated MDS. This variant can be used as a pertinent biomarker of clonal erythropoiesis for monitoring treatments of anemia in SF3B1MUT patients.

Abstract: Disclosed herein are antibodies that specifically bind human erythroferrone and assay methods for detecting and/or measuring human erythroferrone, analogs of human erythroferrone, and fragments thereof. Specifically, the methods comprising using an antibody as a capture reagent and an antibody as a detection reagent for detecting or measuring a detectable label of the at least one detection reagent bound to the erythroferrone polypeptide that is bound to the capture reagent. Further disclosed are the sequences of antibodies.

Abstract: Disclosed herein are antibodies that specifically bind human erythroferrone and assay methods for detecting and/or measuring human erythroferrone, analogs of human erythroferrone, and fragments thereof. Specifically, the methods comprising using an antibody as a capture reagent and an antibody as a detection reagent for detecting or measuring a detectable label of the at least one detection reagent bound to the erythroferrone polypeptide that is bound to the capture reagent. Further disclosed are the sequences of antibodies.

Abstract: Disclosed herein are polypeptides which are capable of modulating the amount of hepcidin in subjects. Also disclosed are compositions and methods for treating diseases and disorders of iron metabolism.

Abstract: Disclosed herein are polypeptides which are capable of modulating the amount of hepcidin in subjects. Also disclosed are compositions and methods for treating diseases and disorders of iron metabolism.