Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-03-31

Study Completion Date

2023-01-31

Brief Summary

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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.

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Detailed Description

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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).

Conditions

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Rare Iron Overlaods

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Rare iron overload with hepcidin deficiency

clinical, biological, and genetic analysis of rare iron overlaod phenotype (except C282Yhomozygisity), samples with DNA

samples with DNA

Intervention Type OTHER

Interventions

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samples with DNA

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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 µmol /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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No