Albertine Donker

Chapter 3 130 SUPPLEMENTAL FILES Supplement 1 (Case Tables) and Supplement 2 (Evidence Based Conclusions) are available in the online version of this article. (https://www.ashpublications.org/blood) Supplement 3: Ferroportin disease Anemia as a presenting symptom (Table 1) and during treatment with phlebotomy (Table 2) in patients diagnosed with iron overload due to a mutation in SLC40A1 (ferroportin). Supplemental Table 1. Characteristics of patients with and without documented anemia, diagnosed with iron overload due to mutations in SLC40A1 (ferroportin) Anemia * Normal Hb p References 1-6 2,3, 5-19 N 8 68 Age (years) Mean 40.5 (n=8) 39.8 (n=66) ns Median 38 38 ns Hb (g/dL) Mean 12.0 (n=8) 14.4 (n=68) < 0.0001 Median 12.1 145 < 0.0001 MCV (fL) Mean 94.0 (n=5) 89.6 (n=19) ns Median 94.0 92.0 ns Serum Iron (µmol/L) Mean 18.7 (n=6) 27.6 (n=25) ns Median 12 20.8 ns Transferrin Saturation (%) Mean 35.6 (n=7) 46.4 (n=66) ns Median 25.0 38.0 ns Ferritin (µg/L) Mean 2282 (n=7) 2276 (n=65) ns Median 1364 1540 ns