The diagnosis of haemochromatosis is based on clinical grounds, gene testing for mutations in the HFE gene, and an assessment of the degree of iron overload in the body as a whole. It is important to establish this stage of the disease in an individual patient and in particular whether there is significant liver injury or even cirrhosis. This may require liver biopsy when histology can be assessed, and iron concentration can be measured. More recently attempts have been made to gauge iron overload in the liver using MRI scanning, and the degree of fibrosis by FibroScan. However liver biopsy remains the most accurate means of assessing liver histology and iron loading. Decisions to do a liver biopsy depend on clinical judgement but is usually indicated when there is hepatomegaly, abnormal liver tests or when the serum ferritin is greater than 1000mcg/l.
Treatment aims to remove all the excess iron from the body and this requires a long series of venesections with monitoring of haemoglobin level regularly, and iron biochemistry intermittently. It is ideal to reach a mild degree of iron deficiency to be certain all excess iron stores are removed. Once that has been achieved, venesection is required every three to four months in order to prevent iron re-accumulation and regular blood tests to monitor iron levels and haemoglobin. Patient with cirrhosis should have six monthly abdominal ultrasound and alpha fetoprotein because of the increased risk of hepatocellular carcinoma.