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 Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum

Eligibility criteria:
Inclusion Criteria:

        All study participants will need to meet the following eligibility criteria for
        participation in the study:

          1. 18 years of age or older

          2. Agree to HIV testing

          3. No known malignancy

          4. Agree to pregnancy testing (when applicable)

          5. Do not have sickle cell disease or trait

          6. Do not have thalassemia or thalassemia trait

          7. Not taking iron supplementation

          8. Have O+ or A+ blood group, and

          9. Consent to participate in the study

        In addition to the above common study screening tests, additional specific eligibility
        criteria for the three study groups are as follows:

          1. Individuals with iron deficiency:

             Iron deficiency will be diagnosed using the biochemical parameters listed below

               -  Serum iron: <40 µg/dL

               -  Iron binding capacity (transferrin): <40 µg/dL

               -  Saturation (SI/TIBC): <10 percent

               -  Hemoglobin: < 9 g/dL

               -  Red cell morphology: Hypochromia and microcytosis

               -  Plasma or serum ferritin: <10 ng/mL

          2. Individuals with Hereditary Hemochromatosis (HH):

             In addition to confirmation with genetic testing, it is expected that patients with HH
             will have the biochemical parameters listed below. From the genotype standpoint, only
             patients homozygous for the C282Y and H63D mutations and those that are compound
             heterozygotes for C282Y/H63D will be enrolled. These are the mutations most associated
             with iron overload in HH patients. Note that we will have different criteria for men
             and women. Since women (with and without hemochromatosis) have greater iron losses
             (secondary to menstruation) in comparison to men, they usually have lower iron stores,
             lower ferritin levels and lower iron saturation.

             Biochemical parameters:

               -  Biochemical markers for patients with HH

               -  Serum iron: >65 µg/dL

               -  Saturation (SI/TIBC): > 60% men; >50% women

               -  Plasma or serum ferritin: >300ng/mL men; >200 ng/mL women

             Each study participant will have been diagnosed (via genetic testing) with HH prior to
             the enrollment.

          3. Healthy volunteers:

        Exclusion Criteria:

        Patients with HIV, that are pregnant, and those with Sickle cell anemia/trait or
        Thalassemia/Thal trait will not be eligible to participate in this study as these
        conditions could interfere with the outcomes of the in vitro studies performed in this
        proposal.
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 70 Years

Eligibility (NLI label): Contradiction