Albertine Donker

Chapter 3 132 Supplemental Table 2. Tolerance to phlebotomy in patients diagnosed with iron overload due to mutations in SLC40A1 (ferroportin) Tolerance to phlebotomy Transient anemia * Good p References 6,8,18, 20-28 4, 5,7-10,12,13,15,19,26,29-41 N 14 ^ 80 Age (years) Mean 52.0 (n=14) 41.1 (n=79) 0.04 Median 55.0 38.0 0.02 Hb (g/dL) Mean 14.0 (n=3) 14.7 (n=30) ns Median 14.2 15.0 ns Serum Iron (µmol/L) Mean 14.6 (n=3) 37.9 (n=26) ns Median 10.7 38.1 0.03 Transferrin Saturation (%) Mean 41.3 (n=13) 58.9 (n=70) 0.04 Median 32.0 59.5 ns Ferritin (µg/L) Mean 3256 (n=14) 2442 (n=75) ns Median 2224 1600 ns Gender (n) Male 8 (n=14) 49 (n=78) Female 6 29 ns Type of mutation + Gain (n) 1 (n=14) 25 (n=80) Loss (n) 13 55 0.06 The mean values were compared using the Student t-test of independent samples, the median values were compared using the Mann-Whitney test of independent samples, while the distribution of gender and type of mutation between both groups were compared using a two-tailed Fisher’s exact test. A p value < 0.05 was considered as statistically significant. *, according to WHO criteria 42 ; + , see legend of Table 1; in three patients phlebotomy could not be continued because of anemia 21,22,28 , in 7 patients weekly phlebotomy resulted in a rapid decline in Hb which was restored after increasing the interval 6,8,20,23,25,27,28 , in one patient Hb normalised despite continuation of the weekly interval 26 , in 2 patients with phlebotomy-induced anemia, the addition of erythropoietin resulted in normalisation of Hb despite continuation of the same phlebotomy regimen 24 , for only one patient MCV was reported (103 fL) 27 . Abbreviations: ns denotes not significant