Patient case (clinical description): A 51-year-old man comes to the office complaining of fatigue and some sexual problems including lack of libido. The patient doesn't smoke or use any illicit drug.  Blood pressure is 120/80 mm Hg and pulse is 70/min.  Oxygen saturation is 99% on room air.  BMI is 24 kg/m2.  Skin examination shows increased pigmentation. Genotype testing is consistent with homozygosity for the C282Y mutation. Laboratory study shows transferrin saturation of 55% and serum ferritin of 550 μg/L. He is diagnosed as a case of hemochromatosis.

Patient's own account: I am 51 years old and I just came back from the doctor's office. I'm sick and tired of being that exhausted, reaching the point where me and my lovely wife are not touching each other anymore! I'm not smoking or doing drugs! My blood pressure was 120/80 mm Hg, and pulse was 70/min and my oxygen saturation 99%. My BMI is 24. My skin also turned a bit darker lately. He tested my genes and told me that I have a mutation of the C282Y gene. I also did lab tests where my transferrin saturation was 55% and serum ferritin was 550  μg/L. The doctor diagnosed me with iron overload.

Clinical trial: Impact of Transferrin Saturation Guided Maintenance Treatment on Quality of Life in HFE Haemochromatosis

Eligibility criteria:
Inclusion Criteria:

          -  - Patients treated with iron chelators;

          -  Patients treated with erythroid growth factors (erythropoietin);

          -  Patient with excessive alcohol consumption (> 20g/day and > 30 g/day for women and men
             respectively);

          -  Patients with chronic haematological condition;

          -  Patients having uncontrolled chronic blood loss (of digestive or gynaecological
             origin);

          -  Patients with chronic kidney failure;

          -  Patients with a diagnosis of cancer or history of cancer in the last year;

          -  Pregnancy or breast feeding.

          -  Patient who are included in another research protocol

          -  Adults legally protected (judicial protection, guardianship, or supervision), persons
             deprived of their freedom.

          -  with C282Y homozygous HFE hemochromatosis;

          -  having finished the initial phase of HFE hemochromatosis treatment and in maintenance
             treatment for at least one year;

          -  having signed an informed consent form.

        Exclusion Criteria:

          -  Patients treated with iron chelators;

          -  Patients treated with erythroid growth factors (erythropoietin);

          -  Patient with excessive alcohol consumption (> 20g/day and > 30 g/day for women and men
             respectively);

          -  Patients with chronic haematological condition;

          -  Patients having uncontrolled chronic blood loss (of digestive or gynaecological
             origin);

          -  Patients with chronic kidney failure;

          -  Patients with a diagnosis of cancer or history of cancer in the last year;

          -  Pregnancy or breast feeding.

          -  Patient who are included in another research protocol

          -  Adults legally protected (judicial protection, guardianship, or supervision), persons
             deprived of their freedom.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.


Eligibility (NLI label): Contradiction