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Haemochromatosis testing in primary care

Defining Haemochromatosis BNP | Haemochromatosis | Vitamin D PDF
Serum transferrin saturation (iron saturation) and ferritin are the best initial tests for hereditary haemochromatosis
Population screening of asymptomatic individuals for haemochromatosis is currently not recommended
Transferrin saturation, ferritin and HFE gene testing are indicated in first degree adult family members of people with haemochromatosis
People with haemochromatosis are monitored with transferrin saturation and ferritin
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Defining haemochromatosis

Our key recommendations are:
  1. Serum transferrin saturation (iron saturation) and ferritin are the best initial tests for hereditary haemochromatosis
  2. Population screening of asymptomatic individuals for haemochromatosis is currently not recommended
  3. Transferrin saturation, ferritin and HFE gene testing are indicated in first degree adult family members of people with haemochromatosis
  4. People with haemochromatosis are monitored with transferrin saturation and ferritin

Hereditary haemochromatosis (HH) is the most commonly identified genetic disorder in the Caucasian population. Over 90% of people with HH have a mutation in the HFE gene which controls the absorption of iron from the G.I. tract. Other mutations may also cause HH in Caucasians and other ethnic groups.

Although its geographic distribution is worldwide, the common genetic mutation (C282Y) is most frequent in individuals of northern European origin, particularly of Nordic or Celtic ancestry. In New Zealand and Australia, it is estimated between 1 in 7 and 1 in 10 people are carriers, and 1 in 200 are homozygous for the most common mutation found on the HFE gene1.

The genetic mutation causes enhanced iron absorption, resulting in raised serum transferrin (iron) saturation and progressive iron accumulation with age, reflected by a rising serum ferritin. If untreated, many patients develop excessive iron deposition that causes organ damage, e.g. to the liver, pancreas, heart and gonads. Haemochromatosis is diagnosed by DNA testing for the HFE gene C282Y mutation. In Caucasian people who develop clinical features of haemochromatosis, over 90% are homozygous for this mutation. Additional HFE gene mutations, for example, H63D and S65C, have now been identified and may result in overload when present as compound heterozygotes with the C282Y mutation, e.g. C282Y/H63D. In the remaining patients with evidence of iron overload, no HFE gene mutation can be identified; this percentage is higher in other ethnic groups. Alternative strategies are required to make the diagnosis in these patients including quantitative phlebotomy or liver biopsy. Specialist referral is recommended.


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