Albertine Donker

IRIDA: a Heterogeneous Disease 171 4 Supplemental Table 3. Continued A. Homozygous/compound heterozygous TMRPSS6 defect age (years) Hb (g/L) MCV (fL) TSAT (%) Ferritin (µg/L) Hepcidin (nM) TSAT/hepcidin (%/nM) Patient ID 10 At presentation 10 8.4 53 2.0 43 np np On intravenous iron 12 11.1 69 2.0 288 16 0.13 Patient ID 11 At presentation 1 11.9 68 6.1 32 7.8 0.78 On oral iron 1 12.1 69 5.6 21 mp np Patient ID 12 At presentation 2 6.4 52 4.0 23 7.6 0.53 On intravenous iron 7 8.7 57 3.0 140 np np Patient ID 13 At presentation 8 7.9 56 1.3 9 6.6 0.29 On treatment with oral iron and vitamin C 10 10.6 72 7.3 144 np np Patient ID 14 At presentation 36 9.3 66 3.8 34 np np On intravenous iron 41 12.6 87 15 566 15 1.0 B. Heterozygous TMPRSS6 defect Patient ID 15 28 At first pregnancy 28 8.9 np np np np np On oral iron 28 8.9 On intravenous iron 28 increase No treatment 37 11.8 86 17 280 6.4 2.69 Patient ID 16 At diagnosis 47 12.1 79 5.0 130 7.5 0.67 On intravenous iron 48 13.9 np 22 908 np np Patient ID 17 At presentation 31 10.5 76 4 36 np np On oral iron 32 no effect no effect np np np np On intravenous iron 32 11.8 83 8 196 13 0.61