Albertine Donker

TSAT/Hepcidin Ratio discriminates TMPRSS6 -related Anemia from IDA 293 8 REFERENCES 1. Hentze MW, Muckenthaler MU, Galy B, Camaschella C. Two to tango: regulation of Mammalian iron metabolism. Cell. 2010;142(1):24-38. 2. Muckenthaler MU, Rivella S, Hentze MW, Galy B. A Red Carpet for Iron Metabolism. Cell. 2017;168(3):344-361. 3. Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell metabolism. 2008;8(6):502- 511. 4. Silvestri L, Nai A, Dulja A, Pagani A. Hepcidin and the BMP-SMAD pathway: An unexpected liaison. Vitamins and hormones. 2019;110:71- 99. 5. Finberg KE, Heeney MM, Campagna DR, et al. Mutations in TMPRSS6 cause iron- refractory iron deficiency anemia (IRIDA). Nature genetics. 2008;40(5):569-571. 6. Silvestri L, Guillem F, Pagani A, et al. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood. 2009;113(22):5605-5608. 7. De Falco L, Sanchez M, Silvestri L, et al. Iron refractory iron deficiency anemia. Haematologica. 2013;98(6):845-853. 8. Girelli D, Nemeth E, Swinkels DW. Hepcidin in the diagnosis of iron disorders. Blood. 2016;127(23):2809-2813. 9. Heeney MM, Finberg KE. Iron-refractory iron deficiency anemia (IRIDA). Hematology/ oncology clinics of North America. 2014;28(4):637-652, v. 10. Melis MA, Cau M, Congiu R, et al. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica. 2008;93(10):1473-1479. 11. Donker AE, Schaap CC, Novotny VM, et al. Iron Refractory Iron Deficiency Anemia (IRIDA): A heterogeneous disease that is not always iron refractory. American journal of hematology. 2016. 12. Donker AE, Raymakers RA, Vlasveld LT, et al. Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis. Blood. 2014;123(25):3873- 3886; quiz 4005. 13. Heeney MM, Guo D, De Falco L, et al. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood. 2018;132(4):448-452. 14. Heeney MM, Campagna DR, Westerman M, Fleming MD. The clinical and genetic spectrum of TMPRSS6 mutations leading to inappropriate hepcidin expression and iron refractory iron deficiency anemia (IRIDA). Paper presented at: Blood2009. 15. Zimmermann MB, Troesch B, Biebinger R, Egli I, Zeder C, Hurrell RF. Plasma hepcidin is a modest predictor of dietary iron bioavailability in humans, whereas oral iron loading, measured by stable-isotope appearance curves, increases plasma hepcidin. The American journal of clinical nutrition. 2009;90(5):1280-1287. 16. Bregman DB, Morris D, Koch TA, He A, Goodnough LT. Hepcidin levels predict nonresponsiveness to oral iron therapy in patients with iron deficiency anemia. American journal of hematology. 2013;88(2):97-101. 17. Moretti D, Goede JS, Zeder C, et al. Oral iron supplements increase hepcidin and decrease iron absorption from daily or twice- daily doses in iron-depleted young women. Blood. 2015;126(17):1981-1989. 18. Stoffel NU, Lazrak M, Bellitir S, et al. The opposing effects of acute inflammation and iron deficiency anemia on serum hepcidin and iron absorption in young women.