Hepcidin in the pathogenesis of iron disorders.
| Disease . | Defect . | Hepcidin . | Iron Absorption . | Iron in Macrophages . | Plasma Iron . | Ferritin . |
|---|---|---|---|---|---|---|
| *Bold denotes that the hepcidin abnormality importantly contributes to pathogenesis | ||||||
| Hereditary hemochromatoses (autosomal recessive) | Hepcidin gene (rare), regulators of hepcidin (common) | Too low for iron load, decreased or absent* | Increased | Decreased until late in the disease | Increased | Increased |
| Hereditary hemochromatosis (autosomal dominant) | Some ferroportin mutations | Insufficient data | Increased | Variable | Increased | Increased |
| Ferroportin disease (autosomal dominant) | Some ferroportin mutations | Variable, depending on mutation and age | Normal until late in the disease? | Increased | Normal until late in the disease | Increased |
| Iron-loading anemias | Increased “erythropoietic regulator,” expanded erythropoiesis | Decreased unless frequent transfusions* | Increased | Increased (due to hemolysis) | Increased | Increased |
| Anemia of inflammation | Increased IL-6 and other cytokines | Increased* | Decreased | Increased | Decreased | Increased |
| Disease . | Defect . | Hepcidin . | Iron Absorption . | Iron in Macrophages . | Plasma Iron . | Ferritin . |
|---|---|---|---|---|---|---|
| *Bold denotes that the hepcidin abnormality importantly contributes to pathogenesis | ||||||
| Hereditary hemochromatoses (autosomal recessive) | Hepcidin gene (rare), regulators of hepcidin (common) | Too low for iron load, decreased or absent* | Increased | Decreased until late in the disease | Increased | Increased |
| Hereditary hemochromatosis (autosomal dominant) | Some ferroportin mutations | Insufficient data | Increased | Variable | Increased | Increased |
| Ferroportin disease (autosomal dominant) | Some ferroportin mutations | Variable, depending on mutation and age | Normal until late in the disease? | Increased | Normal until late in the disease | Increased |
| Iron-loading anemias | Increased “erythropoietic regulator,” expanded erythropoiesis | Decreased unless frequent transfusions* | Increased | Increased (due to hemolysis) | Increased | Increased |
| Anemia of inflammation | Increased IL-6 and other cytokines | Increased* | Decreased | Increased | Decreased | Increased |