Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible first for biological disorder in blood iron parameters and minor clinical disorders, before evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and congestive heart failure. The improvement of screening and treatments made those severe affections rare enough not to evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless this myocardial iron overload might have severe implications on cardiac function on a long term basis. A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a myocardial iron overload (defined by a myocardium T2* value <20ms) in 19% of the subjects. The main objective of this study is to precisely estimate cardiac iron overload in treatment naive patients with newly diagnosed HFE hereditary haemochromatosis with a 3 Tesla MRI, more sensitive than the 1.5 Tesla one, in order to later appreciate its correlation with cardiac morbidity in HHC.

NCT02099214

Conditions

1. Myocardial Iron Overload
2. HFE-Associated Hereditary Hemochromatosis

Interventions

1. Device: 3Tesla cardiac MRI
2. Device: Electrocardiogram (EKG)
3. Biological: Iron and cardiac markers
4. Biological: Pregnancy test
5. Device: Echocardiography at rest
6. Biological: Urinary pregnancy test
7. Device: 3Tesla abdominal MRI

MeSH:Hemochromatosis Iron Overload

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. --- C283Y ---

Hypothesis: Deferasirox can be used as a therapeutic agent to deplete the liver, heart and bone marrow of excess iron in patients with iron overload caused by myelodysplastic syndrome (MDS) and hemochromatosis (HC. Assess the effect of new serum biomarkers (NTBI and hepcidin) and MRI as indicators of iron overload and their usefulness to monitor iron depletion treatment. Study the effect of iron overload and iron depletion on intracellular signal transduction, trace metals concentrations in serum and urine and markers of oxidative stress in blood cells and urine.

NCT01892644

Conditions

1. Hemochromatosis
2. Myelodysplastic Syndromes

Interventions

1. Drug: Deferasirox
2. Other: Venesection
3. Drug: Deferasirox

MeSH:Preleukemia Myelodysplastic Syndromes Hemochromatosis Iron Overload Syndrome

HPO:Myelodysplasia

In Norway the prevalence of C283Y homozygosity is approximately 0.75 in both genders. --- C283Y ---