HFE(High iron FE)-related hereditary hemochromatosis has a highly variable penetrance. No phenotypic or genetic markers can predict the disease. The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily reabsorbed iron for a subject whose iron stock is stable and less than 50 µg / L. The IRI is constant over time, reflecting the importance of the underlying functional deficit. Hepcidin / ferritin (H / F) ratio may be an independent and constant over time marker of disease stage.No data are available on the validated values of this ratio. The goal of this project is to determine the intra-individual variations of the H / F ratio over time during maintenance therapy and to assess the correlation with the IRI.
Description: values of Hepcidin / ferritin plasma ratio
Measure: distribution of values of Hepcidin / ferritin plasma ratio Time: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same timeCohort
There is one SNP
Inclusion Criteria: - Men, at least 18 years old - hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes - Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L, - Written, free and informed consent Exclusion Criteria: - Intercurrent illness unrelated to hemochromatosis causing cytolysis or inflammatory reaction. --- C282Y ---
- Person with a measure of legal protection (guardianship) Inclusion Criteria: - Men, at least 18 years old - hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes - Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L, - Written, free and informed consent Exclusion Criteria: - Intercurrent illness unrelated to hemochromatosis causing cytolysis or inflammatory reaction. --- C282Y ---
- Person with a measure of legal protection (guardianship) Hereditary Hemochromatosis C282Y Homozygous Hemochromatosis HFE-related hereditary hemochromatosis has a highly variable penetrance : 1% of homozygous women and 30% of homozygous men would develop a clinically expressed disease. --- C282Y ---
The study involve 30 C282Y homozygous men, followed in a reference center with phlebotomy maintenance therapy and stabilized at a low level of ferritin (<50 µg / L) for at least 1 year. --- C282Y ---