Clinical Trial: HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis

Study Status: Completed
Recruit Status: Completed
Study Type: Observational




Official Title: HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis

Brief Summary:

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.