HFE gene test

  1. The MBS covers HFE gene testing for patients with:
  2. Raised ferritin or transferrin levels on more than one occasion, or
  3. A 1° relative diagnosed with HH
  4. Most laboratories test for the HFE gene mutations C282Y and H63D (see Contacts, support and testing).
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Interpreting the results of the gene test

  1. All patients with iron overload require follow-up regardless of the HFE gene test result, because in a small percentage of cases of HH a different, rarer gene mutation may be responsible.
  2. Where no mutation is found in the HFE gene, and iron studies are normal, HH is exceedingly unlikely to develop.
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C282Y homozygote:

  1. 90% of Australians with HH have this genetic test result
  2. However, not all individuals with this genotype will develop HH
  3. It is estimated that 60 to 70% of C282Y homozygotes will develop iron overload during their lifetime
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Compound heterozygote:

  1. Only about 1% of people with this genotype develop HH
  2. Iron status should be monitored every 2 to 5 years
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C282Y and H63D heterozygote or H63D homozygote:

  1. The risk of developing HH is extremely small
  2. Some patients may have minor abnormalities in iron studies
  3. There is no need to monitor iron status unless levels are abnormal or symptoms are present
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