Albertine Donker

Increased Serum Hepcidin in Combination with TMPRSS6 Variants: not always IRIDA 201 5 REFERENCES 1. Nie N, Shi J, Shao Y, et al. A novel tri-allelic mutation of TMPRSS6 in iron-refractory iron deficiency anaemia with response to glucocorticoid. British journal of haematology. 2014;166(2):300-303. 2. 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. 3. Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B. Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood. 2008;112(5):2089- 2091. 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. Kroot JJ, Tjalsma H, Fleming RE, Swinkels DW. Hepcidin in human iron disorders: diagnostic implications. Clinical chemistry. 2011;57(12):1650-1669. 6. Hentze MW, Muckenthaler MU, Galy B, Camaschella C. Two to tango: regulation of Mammalian iron metabolism. Cell. 2010;142(1):24-38. 7. 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. 8. 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. 9. 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. 10. Tanaka T, Roy CN, Yao W, et al. A genome- wide association analysis of serum iron concentrations. Blood. 2010;115(1):94-96.