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: Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis

Eligibility criteria:
Inclusion Criteria:

        Patients :

          -  Adults older than 18 ;

          -  Newly diagnosed with HFE hereditary haemochromatosis by genetic testing (homozygous
             for the C283Y mutation on HFE gene);

          -  Treatment-naive;

          -  Showing a ferritin level higher than 200µg/l for women and higher than 300µg/L for
             men;

          -  Affiliated to French Social Security;

          -  Having given a written informed consent.

        Healthy volunteers:

          -  Adults older than 18;

          -  Presenting all the following criterions:

               -  Normal cardiovascular physical examination: no signs of cardiac insufficiency, no
                  pathological cardiac murmur, normal EKG (regular sinus rhythm, no high degree AV
                  nor ventricular blocks, no rhythm anomaly),

               -  Body Mass Index <27 kg/m²,

               -  Normal routine blood biology (blood count, MCV, serum iron, ferritin, transferrin
                  saturation);

          -  Affiliated to French Social Security;

          -  Having given a written informed consent.

        Exclusion Criteria:

        Patients :

        MRI-related criterions :

          -  Cardiac pacemaker or implanted defibrillator ;

          -  Non MRI-compatible prosthetic cardiac valve;

          -  Non MRI-compatible clips/stents/coils/etc.;

          -  Cochlear implant;

          -  Peripheral or neuronal stimulator;

          -  Intra-ocular or brain metallic foreign bodies , foreign body in the eyes' vicinity,
             shrapnel or firearm wound;

          -  Less than 4 weeks-old stents, less than 6 weeks-old osteosynthesis materials;

          -  Claustrophobia;

          -  Pumps, tattoos, permanent makeup, intrauterine device, patches;

          -  Non-removable metallic or magnetic material in the vicinity of the analysed field.

        Other criterions :

          -  Haemodynamic instability / Acute respiratory insufficiency / Altered general status /
             Need for continuous monitoring incompatible wih MRI confines;

          -  Pregnancy, breast feeding;

          -  History of blood transfusion or iron supplementation;

          -  Blood donation in the last 3 months;

          -  Infection in the 7 days prior to the first visit;

          -  Stay in altitude (>1500m) in the past 2 months;

          -  Adults under legal protective regimen or deprived of liberty.

        Healthy volunteers

          -  Alcohol abuse (>20g per day for women, >30g per day for men);

          -  Active tobacco intoxication or smoking cessation in the 6 last months;

          -  Personal cardiovascular medical history;

          -  Cardiovascular functional signs.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 18 Years old.


Eligibility (NLI label): Entailment