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Haemochromatosis

Hereditary haemochromatosis (HFE) is a common inherited disorder in which excessive iron absorption may lead to increased body iron stores with deposition of iron in parenchymal cells of the liver, heart, pancreas and other organs. A number of genes have been implicated in HFE and at present mutations in five different genes are known to cause iron overload. HFE1 is an autosomal recessive condition caused by mutations in the HFE gene and is by far the most prevalent form in Australia.

IRON STUDIES
Serum iro n studies usually reflect body iron stores and are often increased in HFE. These tests are based on measurement of serum ferritin, iron and transferrin. Ferritin is the storage protein for iron and its serum concentration provides an indirect guide to body iron stores. Serum ferritin concentration is influenced by age and gender in healthy individuals.

GENETICS OF HEREDITARY HAEMOCHROMATOSIS
The majority of cases of HFE1 are due to a mutation on both copies of the HFE gene which results in a cysteine to tyrosine substitution at amino acid 282 in the protein product (the C282Y mutation).

CLINICAL MANIFESTATIONS
In the majority of patients with overt haemochromatosis, the first symptoms develop between the ages of 30 and 60 years. Iron loss related to menstruation and pregnancy contribute to later presentation of the disorder in women.

DIAGNOSIS
Haemochromatosis should be suspected in:

• Patients with liver disease of unknown cause, including patients with suspected alcoholic liver disease;
• Family members of haemochromatosis patients. Such subjects are frequently asymptomatic with no clinical signs;
• Other increased risk groups such as patients with diabetes mellitus, typical arthritis, cardiomyopathy, or chronic fatigue.