Albertine Donker

Chapter 4 164 REFERENCES 1. Du X, She E, Gelbart T, et al. The serine protease TMPRSS6 is required to sense iron deficiency. Science. 2008;320(5879):1088- 1092. 2. 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. 3. 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. 4. 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. 5. De Falco L, Sanchez M, Silvestri L, et al. Iron refractory iron deficiency anemia. Haematologica. 2013;98(6):845-853. 6. Girelli D, Nemeth E, Swinkels DW. Hepcidin in the diagnosis of iron disorders. Blood. 2016;127(23):2809-2813. 7. 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. 8. Khuong-Quang DA, Schwartzentruber J, Westerman M, et al. Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics. 2013;131(2):e620-625. 9. Wang CY, Meynard D, Lin HY. The role of TMPRSS6/matriptase-2 in iron regulation and anemia. Frontiers in pharmacology. 2014;5:114. 10. De Falco L, Silvestri L, Kannengiesser C, et al. Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron- deficiency anemia patients and genotype- phenotype studies. Human mutation. 2014;35(11):1321-1329. 11. van der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492(7429):369-375. 12. Benyamin B, Esko T, Ried JS, et al. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications. 2014;5:4926. 13. Nai A, Pagani A, Silvestri L, et al. TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood. 2011;118(16):4459-4462. 14. Kannengiesser C, Guillem F, Silvestri L. Allelic heterogeneity of TMPRSS6 mutations in IRIDA. American journal of hematology. 2009;84(8):E236-E375. 15. Beutler E, Van Geet C, te Loo DM, et al. Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia. Blood cells, molecules & diseases. 2010;44(1):16-21. 16. Parlare M, Ferrao A, Relvast L, C B. TMPRSS6 Gene - Two new nonsense mutations associated with IRIDA. Haematologica. 2010;95(supplement 2):1-773. 17. Pellegrino RM, Coutinho M, D’Ascola D, et al. Two novel mutations in the tmprss6 gene associated with iron-refractory iron- deficiency anaemia (irida) and partial expression in the heterozygous form. British journal of haematology. 2012;158(5):668-672. 18. Hershko C, Camaschella C. How I treat unexplained refractory iron deficiency anemia. Blood. 2014;123(3):326-333. 19. Schrier SL. So you know how to treat iron deficiency anemia. Blood. 2015;126(17):1971. 20. Kroot JJ, Laarakkers CM, Geurts-Moespot AJ, et al. Immunochemical and mass- spectrometry-based serum hepcidin assays for iron metabolism disorders. Clinical chemistry. 2010;56(10):1570-1579.

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