Albertine Donker

TSAT/Hepcidin Ratio discriminates TMPRSS6 -related Anemia from IDA 287 8 Figure 1. TSAT levels (A), hepcidin levels (B) and TSAT/hepcidin levels (C) in IRIDA patients and control patients A. B. C. A. TSAT, transferrin saturation in the total IRIDA group (n=21, red box plot), biallelic IRIDA group (n=11, dark blue box plot), monoallelic group (n=10, light blue blox plot) and IDA controls (n=39, black box plot); B. Serum hepcidin levels in the toal IRIDA group (n=21), biallelic IRIDA group (n=11), monoallelic group (n=10) and IDA controls (n=39); C. TSAT/hepcidin ratio in IRIDA group (n=21). biallelic IRIDA group (n=11) monoallelic group (n=10) and IDA controls (n=39). Box and whisker plots present the quartiles (box), the medians (bold line) and the minimum and maximum (whiskers). TSAT/hepcidin ratio distinguishes IRIDA from IDA with high specificiy ROC-analysis was performed to assess the ability of the TSAT/hepcidin ratio to differentiate between IRIDA and IDA ( Figure 2 ). The area under the curve (AUC) for the TSAT/hepcidin ratio in the total IRIDA group versus the IDA group was 0.991 ( p =0.000). By using the Youden index, 35 an optimal cut-off value of 5.9%/nM was established. At this cut-off, a TSAT/hepcidin ratio of 5.9%/nM or lower distinguished IRIDA patients from IDA controls with a sensitivity of 95% (95% CI, 79-100%) and a specificity of 100% (95% CI, 93-100%). The AUC for TSAT/hepcidin in the bi-allelic IRIDA group versus the IDA group was 1.000 ( p =0.000) with a sensitivity of 100%

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