The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

Figure 5

Iron overload profile of the 227 patients with ferroportin disease (FD), 81 patients with hemochromatosis type 4 (HC4), and 35 patients with unexplained hyperferritinemia (UH). (a) Relationship between serum ferritin and age. Linear regression lines with 95% confidence interval have been fitted to the values from FD (green) and HC (red) patients. Pearson’s correlation coefficients () are provided. (b) Box plots show median and range for the ferritin/age ratio. values were calculated on Student’s -test; . (c) Categorization of the FD (green), HC4 (red), and UH (orange) patients according to serum ferritin and transferrin saturation cutoffs. Dark colors represent the index cases, whereas light colors represent the relatives. Sizes of the circles are proportional to the number of patients. (d) Relationship between mean corpuscular volume and transferrin saturation. Linear regression lines with 95% confidence interval have been fitted to the values from FD (green) and HC (red) patients. Pearson’s correlation coefficients () are provided. (e) Frequency distribution of clinical signs observed in FD (green), HC4 (red), and UH (orange) patients.

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