Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations.
Hemochromatosis type 4
Haemochromatosis type 3
Hereditary haemochromatosis
Juvenile hemochromatosis
Wilson's disease
Wilson–Mikity syndrome
Type 3c diabetes
Niemann–Pick disease, type C