Albertine Donker

IRIDA: a Heterogeneous Disease 147 4 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; deletion c.del of 118 kb in 22q12.3 j c.del of 118 kb in 22q12.3 p.nonsense;p.nonsense + + - Iron iv age 9-14 yrs deletion; frameshift c.del promotor, exon 1-3;c.497delT p.nonsense;p.Leu166Argfs*37 + - BloodTx BloodTx age 2-8 yrs frameshift; frameshift c.497delT; c.497delT p.Leu166Argfs*37;p.Leu166Argfs*37 + + Iron iv age 4-21 yrs c.497delT; c.497delT p.Leu166Argfs*37;p.Leu166Argfs*37 + + - Iron iv as a child c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 + + - Iron iv at age 19 yrs c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 + + BloodTx Iron iv from age 34 yrs Pregnant at presentation frameshift; nonsense c.497delT; c.1832G>A p.Leu166Argfs*37; p.Trp611X + - - Iron po from age <6 yrs frameshift; missense c.497delT; c.1228T>C p. Leu166Argfs*37; p.Cys410Arg + - Iron im Iron im age 33-38 yrs c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg + + - Iron iv age 27-28 yrs c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg + + - Iron iv age 10-12 yrs Diabetes Mellitus c.497delT; c.2383G>A p.Leu166Argfs*37; p.Val795Ile + - - Iron po from age 1 yr c.1904_1905dup ;c.1229G>C p.Lys636Alafs*17; p.Cys410Ser + + - Iron iv from age 3 yrs missense; missense c.521T>C c.1228T>C p.(Leu174Pro); p.(Cys410Arg) + - Vitamin C Iron po + vitamin C from age 8 yrs