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Report for Clinical Trial NCT01541813

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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.

NCT01541813 Rare Iron Overloads Except C282Y Homozygosity
MeSH: Iron Overload



Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 C282Y

Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.. Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization. --- C282Y ---

Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.. Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization. --- C282Y --- --- C282Y ---

Non inclusion criteria: - HFE hemochromatosis: C282Y/C282Y homozygosity - Treatment by iterative phlebotomies (more than 2 phlebotomies) - Hematological diseases with dyserythropoiesis and/or repeated transfusions - Low haptoglobin level, suggesting chronic hemolysis or myelodysplasia - Long-term iron oral and/or parenteral supplementation Inclusion criteria: - Biological profile suggesting hepcidin deficiency: - high serum iron (> 25╬╝mol / l) checked at least 2 times. --- C282Y ---

Non inclusion criteria: - HFE hemochromatosis: C282Y/C282Y homozygosity - Treatment by iterative phlebotomies (more than 2 phlebotomies) - Hematological diseases with dyserythropoiesis and/or repeated transfusions - Low haptoglobin level, suggesting chronic hemolysis or myelodysplasia - Long-term iron oral and/or parenteral supplementation Rare Iron Overloads Except C282Y Homozygosity Iron Overload One of chronic iron overload profiles is a deficit in hepcidin. --- C282Y ---

Non inclusion criteria: - HFE hemochromatosis: C282Y/C282Y homozygosity - Treatment by iterative phlebotomies (more than 2 phlebotomies) - Hematological diseases with dyserythropoiesis and/or repeated transfusions - Low haptoglobin level, suggesting chronic hemolysis or myelodysplasia - Long-term iron oral and/or parenteral supplementation Rare Iron Overloads Except C282Y Homozygosity Iron Overload One of chronic iron overload profiles is a deficit in hepcidin. --- C282Y --- --- C282Y ---

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. --- C282Y ---



HPO Nodes