Diagnosis
Key Points
Table 1. Classification of Iron Overload Syndromes
Hereditary Hemochromatosis
HFE-related
C282Y/C282Y
C282Y/H63D
Other HFE mutations
Non–HFE-related
Hemojuvelin (HJV)
Transferrin receptor-2 (TfR2)
Ferroportin (SLC40A1)
Hepcidin (HAMP)
African iron overload
Secondary Iron Overload
Iron-loading anemias
Thalassemia major
Sideroblastic
Chronic hemolytic anemia
Aplastic anemia
Pyruvate kinase deficiency
Pyridoxine-responsive anemia
Parenteral iron overload
Red blood cell transfusions
Iron–dextran injections
Long-term hemodialysis
Chronic liver disease
Porphyria cutanea tarda
Hepatitis C
Hepatitis B
Alcoholic liver disease
Nonalcoholic fatty liver disease
Following portocaval shunt
Dysmetabolic iron overload syndrome
Miscellaneous
Neonatal iron overload
Aceruloplasminemia
Congenital atransferrinemia
