An individual may be suspected to have this condition based on their medical history, physical exam findings, and blood tests, and confirmation of the diagnosis can be made with further testing, often with use of gene panels. Differential Diagnosis<unk>  shares signs and symptoms with many other conditions including: * Other types of hereditary hemochromatosis * Atransferrinemia * Aceruloplasminemia * African iron overload * Neonatal hemochromatosis * Transfusional iron overload and other forms of secondary hemochromatosis * Porphyria cutanea tarda Blood Testing The presence of hemochromatosis may be discovered incidentally on blood testing, or a diagnosis suspected based on symptoms may be supported or ruled out by blood testing. Elevated serum ferritin, an indicator of blood iron levels, and transferrin saturation, which is involved with absorption of iron from the gut, are very common. * Transferrin saturation may approach or reach 100%, where a normal value would lie between 16% and 45%. If transferrin saturation is normal,<unk>  can be ruled out. * Serum ferritin may only be slightly elevated as the disease progresses, however may quickly reach in excess of 1000ng/mL. Genetic Testing In patients suspected to have<unk> , the diagnosis can be confirmed through genetic testing for specific genes: * A single gene study may be considered in those that demonstrate iron overload at a very young age, and specifically looks for mutations in either the HJV (HFE2) or HAMP genes. As HJV is more commonly associated with the disease, this may be checked first, and if no alterations are found, HAMP may be tested next. * A multi-gene study may be considered to more effectively search for genetic causes of the patient's symptoms, and can include HJV, HAMP, and other genes associated with similar conditions like HFE. Imaging MRI may be utilized in order to assess the extent to which iron has been deposited in certain tissues and organs, however does not have significant weight in the diagnosis of the condition. Biopsy Liver biopsy, or removal of a small piece of liver tissue for analysis, can be done to assess the extent of iron overload in the liver, however is considered not to have a significant weight in the diagnosis of the condition.
Juvenile hemochromatosis
Hereditary haemochromatosis
Hemochromatosis type 4
Haemochromatosis type 3
Wilson's disease
Neonatal hemochromatosis
Gaucher's disease
Wilson–Mikity syndrome