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: Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome

Eligibility criteria:
Inclusion Criteria:

          -  Patients with hemochromatosis, aged > 30 years, C282Y- homozygote, with serum-ferritin
             =/> 1000 µg/L

          -  Patients aged > 18 years with verified low-risk or intermediate-1 risk of
             myelodysplastic syndrome, with normal cytogenetics and serum-ferritin > 1500 µg/L, or
             with a transfusion history of =/> red- blood-cell-transfusions.

        Exclusion Criteria:

          -  Previous or current venesection

          -  MDS patients eligible for hematopoietic stem cell transplantation

          -  Subject complies with one or more of the following standard exclusion criteria for MRI
             examination;

               -  If the patient has a pacemaker.

               -  If the patient has a neurostimulator

               -  If the patient has a "aneurismeclips"

               -  If the patient has a foreign object in the eye. If yes, what object.

               -  If the patient has a cochlea-/earimplant.

               -  If the patient has a V/P shunt.

               -  If the patient is claustrophobic.

               -  If the patient has an artificial heart valve.

               -  If the patient has known renal failure, eGFR <30.

               -  If the patient has or will have a liver transplantation.

               -  Other: metal prostheses, metal implant

          -  Presence of inflammation (CRP ≥ 5 mg/L)

          -  Presence of proteinuria or creatinine > 2 x UNL (Upper Normal Limit)

          -  Estimated glomerular filtration rate (GFR) < 60 mL/min

          -  ALAT, ASAT, GT or ALP > 2 x ULN ( Upper Normal Limit)

          -  ALAT > 90 U/L for women, ALAT > 140 U/L for men

          -  ASAT > 70 U/L for women, ASAT > 90 U/L for men

          -  ALP > 210 U/L for women and men

          -  GT > 90 U/L for women ≤ 40 years, GT > 150 U/L for women > 40 years

          -  GT > 160 U/L for men ≤ 40 years, GT > 230 U/L for men > 40 years

          -  Acute or chronic hepatitis

          -  Patients with chronic liver disease Child Pugh Class B and C

          -  Chronic skin disease with rash

          -  Estimated survival < 6 months

          -  Prior or concomitant treatment with other iron chelator therapies within 6 weeks of
             screening

          -  History of non-compliance to medical regimens, or considered potentially unreliable
             and/or not cooperative

          -  Uncontrolled diabetes, defined as glycolated hemoglobin (HbAlc) > 8.5%

          -  Presence of cataracts or hearing loss disease

          -  Presence of a surgical or medical condition which might significantly alter
             absorption, distribution, metabolism or excretion of study drug

          -  Planned in-hospital surgeries during the course of the study

          -  Subjects who are pregnant, breast-feeding, or intending to become pregnant

          -  Hypersensitivity to the active substance or the excipients in drug product

          -  Any other reason why, in the opinion of the investigator, the patient should not
             participate (e.g. serious heart disease, infection, cancer, etc).
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 18 Years old.
Subject must be at most 80 Years

Eligibility (NLI label): Contradiction