SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS

L Malcovati, K Stevenson… - Blood, The Journal …, 2020 - ashpublications.org
The 2016 revision of the World Health Organization classification of tumors of hematopoietic
and lymphoid tissues is characterized by a closer integration of morphology and molecular …

Ineffective erythropoiesis and its treatment

M Cazzola - Blood, The Journal of the American Society of …, 2022 - ashpublications.org
The erythroid marrow and circulating red blood cells (RBCs) are the key components of the
human erythron. Abnormalities of the erythron that are responsible for anemia can be …

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

L Malcovati, M Karimi, E Papaemmanuil… - Blood, The Journal …, 2015 - ashpublications.org
Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS)
characterized by isolated erythroid dysplasia and 15% or more bone marrow ring …

Iron chelation therapy

A Bruzzese, EA Martino, F Mendicino… - European Journal of …, 2023 - Wiley Online Library
Iron overload is a pathological condition resulting from a congenital impairment of its
regulation, increased intestinal iron absorption secondary to bone marrow erythroid …

Ineffective erythropoiesis and regulation of iron status in iron loading anaemias

C Camaschella, A Nai - British journal of haematology, 2016 - Wiley Online Library
The definition 'iron loading anaemias' encompasses a group of inherited and acquired
anaemias characterized by ineffective erythropoiesis, low hepcidin levels, excessive iron …

Impact of iron overload and potential benefit from iron chelation in low-risk myelodysplastic syndrome

N Shenoy, N Vallumsetla… - Blood, The Journal …, 2014 - ashpublications.org
Myelodysplastic syndromes (MDSs) are a group of heterogeneous clonal bone marrow
disorders characterized by ineffective hematopoiesis, peripheral blood cytopenias, and …

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes

YK Lieu, Z Liu, AM Ali, X Wei… - Proceedings of the …, 2022 - National Acad Sciences
SF3B1 is the most frequently mutated RNA splicing factor in cancer, including in∼ 25% of
myelodysplastic syndromes (MDS) patients. SF3B1-mutated MDS, which is strongly …

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

S Bondu, AS Alary, C Lefèvre, A Houy, G Jung… - Science Translational …, 2019 - science.org
Myelodysplastic syndromes (MDS) with ring sideroblasts are hematopoietic stem cell
disorders with erythroid dysplasia and mutations in the SF3B1 splicing factor gene. Patients …

Iron toxicity–Its effect on the bone marrow

A Isidori, L Borin, E Elli, R Latagliata, B Martino… - Blood Reviews, 2018 - Elsevier
Excess iron can be extremely toxic for the body and may cause organ damage in the
absence of iron chelation therapy. Preclinical studies on the role of free iron on bone marrow …

Improved mass spectrometry assay for plasma hepcidin: detection and characterization of a novel hepcidin isoform

CMM Laarakkers, ET Wiegerinck, S Klaver… - PloS one, 2013 - journals.plos.org
Mass spectrometry (MS)-based assays for the quantification of the iron regulatory hormone
hepcidin are pivotal to discriminate between the bioactive 25-amino acid form that can …