Albertine Donker

IRIDA: a Heterogeneous Disease 149 4 Genetic characteristics Treatment Remarks TMPRSS6 variant that (probably, possibly) affects function Oral iron c Iv iron c Other Duration of treatment c.2383G>A; c.2105G>T p.Val795Ile; p.Cys702Phe + + BloodTx (child) Iron iv age 36-41 yrs Hypothyroidism Genetic characteristics Treatment Remarks TMPRSS6 variant that (probably, possibly) affects function Oral iron c Iv iron c Other Duration of treatment Allele 1;Allele 2 deletion; Wt k c.del promotor, exon 1-3; Wt p.nonsense; Wt + + - Start iv iron unknown Iron iv till age of 35 yrs frameshift; Wt k c.497delT; Wt p.Leu166Argfs*37; Wt + + - Iron iv from age 49 yrs c.497delT; Wt p.Leu166Argfs*37; Wt + + Vitamin C Iron iv from age 31 yrs splicing; Wt k c.230-6G>A l ; Wt splicing; Wt + + - Iron iv when a child No treatment anymore c.863+1G>T m ; Wt splicing; Wt + - - Iron po from age 31 yrs missense; Wt k c1654G>A; Wt p.(Asp552Asn); Wt + + BloodTx Iron iv from age 40 yrs c.2105G>T; Wt p.Cys702Phe; Wt + - - Iron po from age 31 yrs