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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Phlebotomy is the mainstay of treatment in patients with homozygous hereditary hemochromatosis and evidence of iron overload

  • the aim is to keep blood ferritin values <50-100 μg/L
  • it is indicated in all patients with ferritin values >1000 μg/L.
    • a meta analysis has reported that levels more than 1000 μg/L may result in liver cirrhosis
    • initially carried out once a week or fortnightly
  • with moderately raised ferritin levels (200-1000 μg/L), initiation of phlebotomy depends on patient preference and clinical judgment
  • C282Y homozygotes without evidence for iron overload could be monitored annually and treatment instituted when the ferritin rises above normal
  • 400-500 mL is usually removed (which depletes 200-250 g of iron)
    • the volume and frequency may be adjusted according to the degree of iron overload and baseline haemoglobin values.
  • haemoglobin and ferritin levels must be monitored regularly
    • maintenance phlebotomy should be arranged when ferritin levels drops to 50-100 μg/L – usually every two to four months
  • before the initiation of phlebotomy, patients with HFE-HC should be assessed for complications including diabetes mellitus, joint disease, endocrine deficiency (hypothyroidism), cardiac disease, porphyria cutanea tarda, and osteoporosis
  • phlebotomy has been shown to prevent further tissue damage, decreased fatigue, improved skin hyperpigmentation, and reduced early hepatic fibrosis and left ventricular dysfunction
    • there is usually no improvement in arthropathy and testicular atrophy after phlebotomy
    • the risk of hepatocellular carcinoma is not decreased after adequate phlebotomy in patients with cirrhosis, hence screening for hepatocellular carcinoma must continue
  • dietary iron restriction is not necessary when undergoing phlebotomy
    • iron and vitamin C supplementation should be avoided
  • alcohol restriction is also advised. Due to the increased risk of infection with Vibrio vulnificus, uncooked seafood should be avoided
  • to minimize the risk of additional complications, patients with HFE-HC could be immunized against hepatitis A and B while iron overloaded
  • vigorous physical activity should be avoided for 24 h after phlebotomy (1,2,3,4)

Iron chelation therapy can be used as a second line option in patients who are intolerant of phlebotomy.

  • deferoxamine or deferasirox is used
  • clinical data on their use in hereditary haemochromatosis are limited (1,2,3,4,5,6)


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