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

Figure 1.

Figure 1

TSAT/hepcidin ratio in bi‐allelic (1a) and mono‐allelic (1b) affected IRIDA patients and their clinically not affected relatives (2a, 3a, 3b). Patients are defined as having both an IRIDA phenotype (detected after clinical presentation, microcytic anemia, TSAT below the reference range, in the absence of inflammation, not or partially responsive to oral iron) and an IRIDA genotype (a mono‐ or bi‐allelic pathogenic defect in the TMPRSS6 gene). 1. Patients with an IRIDA phenotype; 1a. Probands with bi‐allelic TMPRSS6 defect, n = 11; 1b. Probands with mono‐allelic TMPRSS6 defect, n = 6, and affected relative (mother of patient 17) with mono‐allelic TMPRSS6 defect, n = 1; 2. Relatives without an IRIDA phenotype. 2a. Relatives with bi‐allelic TMPRSS6 defect, n = 2; 3. Relatives without an IRIDA phenotype; 3a. Relatives with mono‐allelic TMPRSS6 defect, n = 14; 3b. Wild‐type TMPRSS6 relatives, n = 4 Patients and relatives with signs of inflammation were excluded from the analysis. Boxes indicate median and interquartile ranges; whiskers describe the range of the data (min–max). *P < 0.05; **P < 0.001 as tested by unpaired t test.