Albertine Donker

Chapter 4 178 Supplemental Table 4. Continued ID Family relation Sex (M/F) Age Diagnosis IRIDA (years) TMPRSS6 defect Allele 1; Allele 2 20 proband F 44 c.1654G>A; Wt p.Asp552Asn; Wt sister F 38 c.1654G>A; Wt p.Asp552Asn; Wt 21 proband F 34 c.2105G>T; Wt p.Cys702Phe; Wt mother F 59 c.2105G>T; Wt p.Cys702Phe; Wt father M 63 Wt; Wt Relatives were screened at the time of diagnosis of IRIDA of the proband. a Hb, MCV, ferritin and TSAT at time of presentation with anemia, except for patient 4,8 and 11; values after treatment with iv iron, im iron and po iron respectively; b Hepcidin, TSAT/hepcidin ratio at time of diagnosis of IRIDA, in absence of inflammation, except for patient 14 (CRP 24 mg/L, auto immune hypothyroidism). Hepcidin references ranges can be found at