Albertine Donker

Chapter 4 148 Table 1. Continued Table 1 A. Characteristics of 14 homozygous or compound heterozygous patients Patient characteristics Laboratory characteristics ID Sex Age years Hb a g/dL MCV a fL Ferritin a μg/L TSAT a (%) TSAT/ Hepcidin b %/nM 14 F child 44 47 9.3 66 34 3.0 np Median (range) M:F 5:9 4.5 (0-33) 7.9 (5.5-10) 61 (51-66) 29 (9-66) 3.5 (1.9-5.2) 0.51 (0.13-1.0) Table 1 B. Characteristics of 7 heterozygous IRIDA patients Patient characteristics Laboratory characteristics ID Sex Age years Hb g/dL MCV fL Ferritin μg/L TSAT (%) TSAT/ Hepcidin %/nM I d II e III f 15 g F 10 40 42 5.4 76 np np 2.7 16 F 47 48 53 12 79 130 5.0 0.70 17 F 31 32 33 10 76 32 4.0 0.30 18 F 10 47 48 12 67 np np 1.1 19 F 39 41 46 10 78 53 m 1.0 20 F 43 43 44 7.9 62 10 2.7 np 21 F 31 34 40 9.7 68 22 4.0 2.6 Median (range) M:F 31 (10-47) 10 (5.4-12) 76 (62-79) 32 (10-130) 4.0 (2.7-6.0) 1.1 (0.33-2.7)