Hereditary hemochromatosis and related disorders
|
Hereditary hemochromatosis |
Type 1 |
HFE gene (6p21.3) mutation |
Type 2 |
Subtype A: hemojuvelin gene (1q21) mutation |
Subtype B: hepcidin gene (19q13) mutation |
Type 3 |
Transferrin receptor 2 gene (7q22) mutation |
Type 4 |
Ferroportin gene (2q32) mutation |
Ferritin gene mutation |
H-ferritin gene mutation (mRNA iron-responsive-element mutation) |
DMT1 gene mutation |
|
Ceruloplasmin gene mutation |
|
Atransferrinemia |
Transferrin gene mutation |
Secondary iron overload
|
Ineffective erythropoiesis |
Thalassemia, sideroblastic anemia, myelodysplastic syndromes |
Administration of iron for long periods |
Take orally or intravenous injection |
Transfusion for long periods |
|
Dietary iron overload |
|
Liver dysfunction |
Alcoholic liver injury, chronic hepatitis (type C), non-alcoholic steatohepatitis |
Others |
Porphyria |