Abstract: Hereditary haemochromatosis (HH) is an autosomal recessive genetic disease which increased
intestinal absorption of iron due to gene mutation. Hereditary haemochromatosis may cause the accumulation
of iron in tissues and sometimes lead to organ damage, liver is the major organ affected by HH. The most
common type of HH is HFE related HH and non-HFE associated haemochromatosis is rare. Symptoms
and signs are initially non-specific, so the disease is often diagnosed at a late stage when substantial
organ damage has already occurred. The most common clinical complications of HH include cirrhosis,
diabetes, hyperpigmentation of the skin, and hepatocellular carcinoma. Liver biopsy should be performed
in patients with HH if the liver enzymes are elevated or serum ferritin is higher than 1000 μg/L. This is
useful to determine the degree of iron overload and the stage of fibrosis. This review summarised the
clinical presentation and pathological diagnosis, including histological changes caused by iron deposition,
measurement of the hepatic iron concentration and changes after treatment.