Symptoms vary greatly between individuals with type<unk>  hemochromatosis. This difference in symptoms is likely due to the different types of SLC40A1 mutations patients may have. In general, signs and symptoms of type<unk>  hemochromatosis are caused by excess iron in cells, which leads to tissue damage. The damage is largely due to iron-catalyzed oxidative reactions. Iron can exchange electrons with a variety of substrates, which can lead to generation of reactive oxygen species. This can lead to oxidative stress, lipid peroxidation, and DNA damage, which may result in cell death. Two main forms of<unk>  exist (A and B), and the symptoms of these forms are distinct from one another. Type<unk> A hemochromatosis typically has milder symptoms than other types of hemochromatosis. Individuals with type<unk> A hemochromatosis tend to have hyperferritinemia (elevated ferritin in the blood plasma) and low saturated transferrin levels. These individuals are likely to have liver and spleen iron overload, primarily in Kupffer cells and other macrophages. Because iron export is impaired, iron is unavailable for transport by circulating transferrin. This iron unavailability potentially leads to mild anemia in type<unk> A hemochromatosis patients because iron is necessary for hemoglobin synthesis, and red blood cells have a relatively high turnover rate. Over time, iron stores increase, and individuals with type<unk> A hemochromatosis may develop hepatic fibrosis. The symptoms of type<unk> B hemochromatosis tend to be more severe. They resemble the symptoms of hemochromatosis types 1, 2, and 3. Plasma iron concentration is elevated, and symptoms include joint pain, diabetes, and arrhythmia. Liver iron deposition tends to be greater in type<unk> B than in type<unk> A. Liver damage occurs more frequently in this form of hemochromatosis than in type<unk> A, and some individuals develop cirrhosis of the liver.
Hemochromatosis type 4
Haemochromatosis type 3
Hereditary haemochromatosis
Juvenile hemochromatosis
Wilson's disease
Wilson–Mikity syndrome
Type 3c diabetes
Niemann–Pick disease, type C