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. 2016 Nov 16;91(12):E482–E490. doi: 10.1002/ajh.24561

Table 1.

Characteristics of IRIDA Patients. I A. Characteristics of 14 Homozygous or Compound Heterozygous Patients

Patient characteristics Laboratory characteristics Genetic characteristics Treatment Remarks
ID Sex Age years Hbag/dl MCVafl Ferritina
μg/l		 TSATa
%		 TSAT/hepcidinb
%/nM		 TMPRSS6 variant that (probably, possibly) affects function Oral iron[Link] Iv iron[Link] Other Duration of treatment
Id IIe IIIf Allele 1;Allele 2
deletion; deletion
1 F 3 9 14 7.9 53 29 4.0 0.27 c.del of 118 kb in 22q12.3jc.del of 118 kb in 22q12.3p.nonsense;p.nonsense + + − Iron iv age 9–14 years
deletion; frameshift
2g F 2 7 12 6.8 54 53 5.2 0.48 c.del promotor, exon 1–3;c.497delTp.nonsense;p.Leu166Argfs*37 + − BloodTx BloodTx age 2–8 years
frameshift; frameshift
3 F 4 21 24 7.1 65 44 np 0.59 c.497delT; c.497delT p.Leu166Argfs*37; p.Leu166Argfs*37 + + Iron iv age 4–21 years
4h M child 31 33 10 63 np 2.8 np c.497delT; c.497delT p.Leu166Argfs*37; p.Leu166Argfs*37 + + − Iron iv as a child
5 F 5 18 23 8.1 61 16 2.7 1.0 c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 + + − Iron iv at age 19 years
6 F 18 34 36 7.6 61 18 3.0 np c.1904_1905dup; c.1904_1905dup p.Lys636Alafs*17;p.Lys636Alafs*17 + + BloodTx Iron iv from age 34 years Pregnant at presentation
frameshift; nonsense
7 M 0 6 9 5.5 51 np 4.0 0.53 c.497delT; c.1832G>A p.Leu166Argfs*37; p.Trp611X + − − Iron po from age <6 years
frameshift; missense
8 F 33 38 41 np np np np 0.43 c.497delT; c.1228T>C p. Leu166Argfs*37; p.Cys410Arg + − Iron im Iron im age 33–38 years
9 F 27 32 35 7.4 63 66 5.0 0.51 c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg + + − Iron iv age 27–28 years
10 M 10 12 12 8.4 53 43 2.0 0.13 c.497delT; c.1324G>A p.Leu166Argfs*37; p.Gly442Arg + + − Iron iv age 10–12 years Diabetes mellitus
11i F 0 1 2 9.8 66 16 4.0 0.78 c.497delT; c.2383G>A p.Leu166Argfs*37; p.Val795Ile + − − Iron po from age 1 yr
12 M 2 3 8 6.4 52 23 4.0 0.53 c.1904_1905dup; c.1229G>C p.Lys636Alafs*17; p.Cys410Ser + + − Iron iv from age 3 years
missense; missense
13 M 8 8 11 7.9 56 9.0 1.9 0.29 c.521T>C c.1228T>C p.Leu174Pro; p.Cys410Arg + − Vitamin C Iron po
+ vitamin C from age 8 years
14 F child 44 47 9.3 66 34 3.0 np c.2383G>A; c.2105G>T p.Val795Ile; p.Cys702Phe + + BloodTx
(child)		 Iron iv age
36–41 years		 Hypothyroidism
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)