Hereditary haemochromatosis


Key information

Appropriate Tests

Common, autosomal recessive disorder of iron absorption, with progressively increasing tissue iron deposition and organ damage. Not all patients with detectable common genetic abnormalities may be symptomatic, but they remain at risk for cirrhosis and other end organ damage.

Juvenile haemochromatosis is a different disease.

Patients being evaluated for iron overload should have C282Y and H63D mutation analysis.

Iron studies: Ferritin.

See Table 3.

HFE mutation analysis: PCR for C282Y, H63D and S65C mutations.

The C282Y mutation is responsible for 85-90% of haemochromatosis cases in persons of European origin. The role of the H63D and the S65C mutation is less clear though C282Y / H63D compound heterozygotes may demonstrate iron overload.

Liver biopsy: may sometimes be required to diagnose and provide prognostic information in haemochromatosis. Used to assess hepatic iron index and for the presence of fibrosis/cirrhosis.

Family studies: should be performed on first degree relatives (Iron studies and HFE mutation testing). First-degree relatives have a 25% chance of having haemochromatosis if one parent has genetic haemochromatosis.

Screening for hereditary haemochromatosis and differential diagnosis

Diagnostic strategies using markers included in serum Iron studies should target high-risk groups such as those with a family history or suspected organ involvement.

In patients with suggestive clinical features, physical findings or family history, HFE mutation analysis should be performed if ferritin is abnormal.

Secondary causes of iron overload and elevated ferritin

Secondary iron overload occurs when individuals absorb or are exposed to excessive iron in the absence of an inherited disorder. The most common causes are ineffective erythropoiesis (eg, thalassaemia), parenteral or transfusion-related iron overload and liver disease.

Serum Ferritin can be elevated in the absence of increased iron stores. Consider a reactive increase in ferritin associated with liver disease (viral hepatits, alcoholic liver disease, non-alcoholic fatty liver disease), infection, inflammation and metabolic syndrome.




See Cirrhosis - metabolic

Diabetes mellitus


Cardiac failure

See Cardiomyopathy

Gonadal hypofunction

See Testicular failure and Amenorrhoea.

Pigmentation (skin)






Hepatocellular carcinoma





Bacon BR et al; American Association for the Study of Liver Diseases. Diagnosis and management of haemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54: 328-43.

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