Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease Caroline Le Lan, Annick Mosser, Martine Ropert, Lénaïck Detivaud, Véronique Loustaud–Ratti, Denis Vital–Durand, Laurent Roget, Edouard Bardou–Jacquet, Bruno Turlin, Véronique David, Olivier Loréal, Yves Deugnier, Pierre Brissot, Anne–Marie Jouanolle  Gastroenterology  Volume 140, Issue 4, Pages 1199-1207.e2 (April 2011) DOI: 10.1053/j.gastro.2010.12.049 Copyright © 2011 AGA Institute Terms and Conditions

Figure 1 Relationship between ALT and transferrin saturation. ALT and transferrin saturation are positively correlated: rho, 0.624; P < .0001. Gastroenterology 2011 140, 1199-1207.e2DOI: (10.1053/j.gastro.2010.12.049) Copyright © 2011 AGA Institute Terms and Conditions

Figure 2 (A) Distribution of transferrin saturation according to the genotype of patients showing FPN gene mutations. The lines represent the limits of normal values. In most of the genotypes considered, patients showed low, normal, or high transferrin values. (B) Distribution of plasma ferritin values according to the genotype of patients showing FPN gene mutations. Gray circles, previously described mutations; black circles, new mutations. Gastroenterology 2011 140, 1199-1207.e2DOI: (10.1053/j.gastro.2010.12.049) Copyright © 2011 AGA Institute Terms and Conditions

Figure 3 Families with heterogeneous phenotypes regarding their genotype. (A) A family with p.Gly204Ser mutation, and (B) a family with p.Asn185Asp. The black arrow indicates the proband. [=], nonmutated allele; FRT, plasma ferritin level; Tf Sat, plasma transferrin saturation. Gastroenterology 2011 140, 1199-1207.e2DOI: (10.1053/j.gastro.2010.12.049) Copyright © 2011 AGA Institute Terms and Conditions

Supplementary Figure 1 (A) Correlation between serum ferritin and MRI (magnetic resonance imaging) hepatic iron concentration; (B) Correlation between serum ferritin and biochemical hepatic iron concentration (HIC); (C) Correlation between serum ferritin and removed iron; (D) Correlation between serum transferrin saturation and fibrosis Metavir score. Gastroenterology 2011 140, 1199-1207.e2DOI: (10.1053/j.gastro.2010.12.049) Copyright © 2011 AGA Institute Terms and Conditions