Albertine Donker

Chapter 4 170 Supplemental Table 3. Response to enteral and parenteral iron supplementation in patients diagnosed with IRIDA A. Homozygous/compound heterozygous TMRPSS6 defect age (years) Hb (g/L) MCV (fL) TSAT (%) Ferritin (µg/L) Hepcidin (nM) TSAT/hepcidin (%/nM) Patient ID 1 At presentation 3 7.9 53 4.0 29 np np On oral iron 3 8.7 56 3.0 17 5 0.60 On intravenous iron 10 12 64 7.0 367 25 0.27 Without treatment 14 13 82 np 315 np np Patient ID 2 At presentation 2 6.8 54 5.2 53 np np On blood transfusions 6 8.7 58 3.4 194 7.1 0.48 Patient ID 3 At presentation 4 7.1 65 np 44.2 np np On oral iron 4 no effect On intravenous iron 18 13 75 np 393 15 np Patient ID 5 On oral iron 13 8.1 61 2.7 16 np np On intravenous iron 18 10.8 77 4.7 249 3.6 1.0 Patient ID 6 At diagnosis (pregnant) 34 7.6 61 3.0 18 np np On intravenous iron 35 9.3 70 4.0 232 np np Patient ID 7 At presentation 0.3 5.5 51 np np np np On oral iron 6 10.9 68 12 311 23 0.53 Patient ID 8 At diagnosis On intramuscular iron 38 11.6 80 8.3 934 19 0.43 On intramuscular iron 39 12.7 79 7.9 924 a 29 0.27 No treatment 40 np np 13 1053 26 0.50 No treatment 41 11.4 76 np 745 np np Patient ID 9 At presentation 27 7.4 62 5.0 66 np np On intravenous iron 30 9.8 64 5.1 143 10 0.51