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

Science Translational Medicine
Sabrina Bondu, Anne-Sophie Alary, Carine Lefèvre, Alexandre Houy, Grace Jung, Thibaud Lefebvre, David Rombaut, Ismael Boussaid, Abderrahmane Bousta, François Guillonneau, Prunelle Perrier, Samar Alsafadi, Michel Wassef, Raphaël Margueron, Alice Rousseau, Nathalie Droin, Nicolas Cagnard, Sophie Kaltenbach, Susann Winter, Anne-Sophie Kubasch, Didier Bouscary, Valeria Santini, Andrea Toma, Mathilde Hunault, Aspasia Stamatoullas, Emmanuel Gyan, Thomas Cluzeau, Uwe Platzbecker, Lionel Adès, Hervé Puy, Marc-Henri Stern, Zoubida Karim, Patrick Mayeux, Elizabeta Nemeth, Sophie Park, Tomas Ganz, Léon Kautz, Olivier Kosmider, Michaëla Fontenay
DOI
10.1126/scitranslmed.aav5467
Abstract

A variant erythroferrone contributes to hepcidin modulation and systemic iron accumulation in patients with
SF3B1
-mutated myelodysplastic syndrome.

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