Hereditary Haemochromatosis

 

  1. Order iron studies (fasting transferrin saturation and serum ferritin) in the presence of one or more
    of the following:
  2. Lethargy and weakness
  3. Arthralgia
  4. Loss of libido
  5. Upper abdominal discomfort
  6. Hepatomegaly
  7. Grey/bronze skin pigmentation
  8. Testicular atrophy
  9. Joint swelling/tenderness
  10. Consider HFE gene testing or referral to a gastroenterologist if a patient has:
  11. Fasting transferrin saturation > 45% or
  12. Fasting serum ferritin >250μg/L (pre-menopausal women) or > 300 μg/L (post-menopausal women or men)
  13. Discuss cascade testing for 1° and 2° relatives when an individual is diagnosed with HH or found to be heterozygous for an HFE mutation
  14. The MBS covers HFE gene testing for patients with:
  15. Raised ferritin or transferrin saturation levels on more than 1 occasion; or
  16. 1° relative diagnosed with HH or with two HFE mutations.
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