Table 2

Hepcidin and iron disorders

DisorderGenes mutatedHepcidin
Hereditary hemochromatosis (hepcidin deficiency) HFE, TfR2, HJV, hepcidin Low or inappropriately normal, despite iron load 
Hereditary hemochromatosis (hepcidin resistance) Ferroportin High, reflects iron load, rare 
Ferroportin disease Ferroportin Insufficiently studied 
Iron-refractory iron deficiency anemia TMPRSS6 High or inappropriately high normal, despite iron deficiency 
Hypotransferrinemia Transferrin Low unless transfused with plasma 
β-Thalassemia intermedia β-Globin Low unless transfused 
Chronic hepatitis C, alcoholic liver disease  Decreased 
Anemia of inflammation  High or inappropriately normal, despite anemia and hypoferremia 
Anemia of chronic kidney diseases  High or inappropriately normal, despite anemia and hypoferremia 
DisorderGenes mutatedHepcidin
Hereditary hemochromatosis (hepcidin deficiency) HFE, TfR2, HJV, hepcidin Low or inappropriately normal, despite iron load 
Hereditary hemochromatosis (hepcidin resistance) Ferroportin High, reflects iron load, rare 
Ferroportin disease Ferroportin Insufficiently studied 
Iron-refractory iron deficiency anemia TMPRSS6 High or inappropriately high normal, despite iron deficiency 
Hypotransferrinemia Transferrin Low unless transfused with plasma 
β-Thalassemia intermedia β-Globin Low unless transfused 
Chronic hepatitis C, alcoholic liver disease  Decreased 
Anemia of inflammation  High or inappropriately normal, despite anemia and hypoferremia 
Anemia of chronic kidney diseases  High or inappropriately normal, despite anemia and hypoferremia 

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