Albertine Donker

Chapter 4 192 Supplemental Table 9. Ferrokinetic studies Parameters At presentation ID 3 (F) ID 14 (F) ID 15 (F) Reference mean ± SD (range) Hemoglobin (g/dL) 7.1 9.3 5.4 Men Women Iron deficiency MCV (fL) 65 66 76 Ferritin (μg/L) 44 34 np Serum iron (μmol/l) 7 2 10 Mucosal iron uptake (%) 37.6 np np 38 ±17 16 (4-61) 39±15 16 (13-68) 73±19 16 (41-91) Mucosal iron transfer (fraction) 0.41 np np 0.54±0.18 16 (0.23-0.87) 0.65±0.14 16 (0.42-0.91) 0.98±0.04 16 (0.92-1.08) Plasma iron T1/2 (min) 24.7 np np (60-120) 17 3 8 a Red cell iron incorporation 14 days after iv iron (%) 90.6 np np (75-85) 17 (75-85) 17 (90-100 17 Iron retention 14 days after oral iron (%) 15.4 14.0 23.9 20±10 16 (2-34) 25±11 16 (6-51) 71±19 16 (41-95) mucosal iron uptake, the percentage of iron taken up by the mucosal cells from the lumen of the gut; mucosal iron transfer, the fraction of the iron taken up by the mucosal cells that passed into the blood; iron retention, the iron still present in the body 14 days after oral ingestion according to Marx 14 a based on 1 patient with iron deficiency anemia, mentioned in reference. 17 Abbreviations: np denotes not provided; F, female Effect of intravenous iron on serum iron parameters To assess the kinetics of the effect of intravenous iron on blood and serum parameters we investigated the effect of intravenous administration of 200 mg iron sucrose on serum iron parameters and hepcidin in one bi-allelic affected patient (ID 14). Serum hepcidin increased significantly from 7.3 to 8.9 nmol/L within 6 hours after administration and returned to baseline level 1 week after intravenous iron administration. Serum iron and TSAT were not different before and 1week after intravenous iron administration. Compared to baseline, one week after treatment, ferritin, Hb and MCV were (slightly) increased from 592 to 649 µg/L, 13.5 to 14.2 g/ dL and 88 to 90 fL, respectively. These latter findings are in agreement with clinical observations in the other patients, demonstrating that in IRIDA patients intavenous iron leads to increase of Hb, MCV and ferritin, but not of TSAT.