Rare Iron Overloads Except C282Y Homozygosity Clinical Trial
Official title:
Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Chronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. The study explores this specific cause, and aim to characterize this iron overload in term of clinical, biological, genetic and functional specificities.
One of chronic iron overload profiles is a deficit in hepcidin. Hepcidin is the regulating
hormone for iron. This specific profile is characterized by an elevated serum iron, an
elevated transferrin saturation, and parenchymal damages of iron overload. This disease is
not connected with known mutations of iron metabolism genes.
The main objective of this study is the clinical, biological, genetic and functional
characterization of rare iron overload phenotypes associated with hepcidin deficiency except
C282Y homozygosity.
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Observational Model: Cohort, Time Perspective: Prospective