Article
Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1.
Haematologica - 1 Mar 2013
Ambaglio Ilaria, Malcovati Luca, Papaemmanuil Elli, Laarakkers Coby M, Della Porta Matteo G, Gallì Anna, Da Vià Matteo C, Bono Elisa, Ubezio Marta, Travaglino Erica, Albertini Riccardo, Campbell Peter J, Swinkels Dorine W, Cazzola Mario
Abstract excerpt
Somatic mutations of the RNA splicing machinery have been recently identified in myelodysplastic syndromes. In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sideroblasts, a condition characterized by ineffective erythropoiesis and parenchymal iron overload. We studied the relationship between SF3B1 mutation, erythroid activity and hepcidin levels in...
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