Albertine Donker

Chapter 3 124 REFERENCES 1. IolasconA, De Falco L, Beaumont C. Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis. Haematologica. 2009;94(3):395-408. 2. van Rooijen KL, Raymakers RA, Cuijpers ML, Brons PP, Janssen MC, Swinkels DW. [New causes of microcytic anaemia: hereditary disorders of iron homeostasis]. Nederlands tijdschrift voor geneeskunde. 2010;154:A1039. 3. Camaschella C. Recent advances in the understanding of inherited sideroblastic anaemia. British journal of haematology. 2008;143(1):27-38. 4. Fleming MD. Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Hematology / the Education Program of the American Society of Hematology American Society of Hematology Education Program. 2011;2011:525-531. 5. Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Seminars in hematology. 2009;46(4):371-377. 6. Donovan A, Brownlie A, Zhou Y, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000;403(6771):776-781. 7. https://richtlijnendatabase.nl/over_deze_site/ richtlijnontwikkeling.html. Date of Access 28 November 2019 8. Brouwers MC, Kho ME, Browman GP, et al. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ : Canadian Medical Association journal = journal de l’Association medicale canadienne. 2010;182(18):E839-842. 9. Atkins D, Best D, Briss PA, et al. Grading quality ofevidenceandstrengthofrecommendations. Bmj. 2004;328(7454):1490. 10. Guyatt GH, Oxman AD, Vist GE, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. Bmj. 2008;336(7650):924-926. 11. Hentze MW, Muckenthaler MU, Galy B, Camaschella C. Two to tango: regulation of Mammalian iron metabolism. Cell. 2010;142(1):24-38. 12. Grantham-McGregor S, Ani C. A review of studies on the effect of iron deficiency on cognitive development in children. The Journal of nutrition. 2001;131(2s-2):649S- 666S; discussion 666S-668S. 13. Fleming RE, Ponka P. Iron overload in human disease. The New England journal of medicine. 2012;366(4):348-359. 14. Du X, She E, Gelbart T, et al. The serine protease TMPRSS6 is required to sense iron deficiency. Science. 2008;320(5879):1088- 1092. 15. 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. 16. 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. 17. Benyamin B, Ferreira MA, Willemsen G, et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nature genetics. 2009;41(11):1173- 1175. 18. Chambers JC, Zhang W, Li Y, et al. Genome- wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nature genetics. 2009;41(11):1170-1172. 19. 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. 20. Hershko C, Camaschella C. How I treat unexplained refractory iron deficiency