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: The present invention provides a method for determining the amino acid polymorphisms of heavy gamma chain of immunoglobulins G by a proteomic approach. This method distinguishes the immunoglobulins of the mother and those of the newborn in a blood sample obtained during the first months of the child's life. The invention also relates to the use of this method in the early diagnosis of vertically transmitted diseases in the neonate. The invention also provides peptides distinctive of G3m and IGHG3 alleles, and a kit comprising said peptides.

Abstract: The present invention provides a method for determining the amino acid polymorphisms of heavy gamma chain of immunoglobulins G by a proteomic approach. This method distinguishes the immunoglobulins of the mother and those of the newborn in a blood sample obtained during the first months of the child's life. The invention also relates to the use of this method in the early diagnosis of vertically transmitted diseases in the neonate. The invention also provides peptides distinctive of G3m and IGHG3 alleles, and a kit comprising said peptides.