Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity

  • End date
    Dec 15, 2022
  • participants needed
  • sponsor
    Rennes University Hospital
Updated on 16 April 2019
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The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities.


Chronic iron overload are responsible for morbidity and mortality. There are many causes, genetic and acquired. Hepcidin deficiency related to genetic desease is one of them.

This study concerns specifically this cause, and seeks to characterize these iron overloads on clinical, biological, genetic and functional point of view.

A significant number of patients with chronic iron overload, present a phenotype of hepcidin deficiency. This profile is characterized by an elevated plasma iron increased serum transferrin saturation, a transferrin saturation, and a parenchyma distribution of iron overload. These diseases either remains unexplained or are associated with mutations in the gene involved in iron metablism regulation.

The main objective of this study is to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).

Treatment samples with DNA
Clinical Study IdentifierNCT02619955
SponsorRennes University Hospital
Last Modified on16 April 2019

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Inclusion Criteria

Is your age greater than or equal to 18 yrs?
Gender: Male or Female
Do you have Rare Iron Overlaods?
Biological profile suggestive of hepcidin deficiency
increase of transferrin saturation coefficient (> 50 %) verified on at least 2 times, and calculated from the transferrinemia
Proved hepatic iron overload: by the dosage of the iron hepatic concentration either on block hepatic biopsic, or by MRI according to the method of quantification of the iron validated overload (by adopting a threshold of 100 mol /g)
Patient's written consent for examination of genetic characteristics for diagnosis and collection development for genetic and not genetic research within the framework of an abnormality of the iron metabolism
Patient written inform consent

Exclusion Criteria

HFE hemochromatosis: homozygosity C282Y/C282Y
Treatment with iterative phlebotomy
Hematologic diseases with dyserythropoiesis and/or repeated transfusions
Haptoglobin low, below normal directing towards the diagnosis of chronic hemolysis, myelodysplasia
Prolonged oral or parenteral iron supplementation
Current or past excessive regular drinking
Patient minor or under legal protection measure
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