Management

  1. Follow up all patients with iron overload regardless of the HFE gene test result.
  2. If HFE gene test shows a patient to be C282Y homozygote and iron overload is absent, perform iron studies every 2 to 5 years.
  3. If HFE gene test shows a patient to be C282Y homozygote and iron overload is present or the patient has
    other complications of HH:
  4. Lifelong venesection is required
  5. An initial course of 1 or 2 venesections per week is performed until the excess iron stores are removed
  6. The response to venesection treatment depends on the presenting symptoms and the stage of the condition at the time of diagnosis (see Table 2)
  7. Therapeutic venesection can still be arranged even if a patient is not eligible to donate blood for other reasons
  8. Once iron levels are at low normal levels, patients usually require one venesection every 3 to 4 months to keep levels low without rendering the patient iron-deficient
  9. A high red meat intake may increase the frequency of venesections required to maintain normal iron stores and therefore patients may choose to reduce their red meat intake
  10. Diet modification may help if patients cannot undergo venesection, but it is not nearly as effective
  11. Vitamin C (ascorbic acid) supplements should be avoided, since vitamin C increases iron absorption
  12. Patients should abstain from alcohol consumption until iron levels are normalised through venesection
  13. Fibrosis does not reverse following venesection therapy
  14. It is rare for patients not to tolerate venesection therapy
  15. Non-cirrhotic patients diagnosed and treated early have a normal life expectancy provided they continue treatment
  16. Cirrhosis is unlikely
  17. If the ferritin level is <1000 μg/L, the AST level is normal and there is no hepatomegaly
  18. If the patient is non-cirrhotic at diagnosis and is adequately treated
  19. Cirrhosis rarely develops, but if cirrhosis does develop, it does not regress to normal despite treatment
  20. Patients with cirrhosis have a risk of primary liver cancer even when complete iron depletion is achieved. These patients should be screened every six months with hepatic ultrasound and serum
    a-fetoprotein levels
  21. Liver biopsy may be performed to either confirm or exclude the presence of cirrhosis if blood tests are suggestive of cirrhosis
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Table 2

Response to venesection

Table 2

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