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Hereditary haemochromatosis C018

Last amended 
21 January 2021
Current RMA Instruments
Reasonable Hypothesis SOP
23 of 2021
Balance of Probabilities SOP
24 of 2021
Changes from previous Instruments

SOP Bulletin 218

ICD Coding
  • ICD-9-CM Codes: 275.0
  • ICD-10-AM Codes: E83.1
Brief description

Hereditary haemochromatosis covers a group of genetic disorders of iron transport and metabolism which lead to an excessive accumulation of iron in the body, resulting in damage to organs and a variety of clinical manifestations.

Confirming the diagnosis

This diagnosis is typically made based on laboratory findings (high ferritin levels and HFE gene mutations).  The SOP definition requires either clinical manifestations or documented iron overload to be present, rather than just the genetic abnormality.

The relevant medical specialist is a gasteroenterologist, hepatologist or haematologist.

Additional diagnoses covered by SOP
  • Nil
Conditions not covered by SOP
  • Genetic abnormalities associated with haemochromatosis but without iron overload/ clinically apparent disease.
  • Haemosiderosis#
  • Secondary (non-genetic) iron overload

# non-SOP condition

Clinical onset

Although this is a genetic disorder, the condition typically does not come to attention until after age 40 in males and after menopause in females.  This is because clinical manifestations from iron overload take time to become apparent.  Symptoms tend to be non specific (fatigue, joint pain, symptoms of liver disease).  The condition may be detected earlier in asymptomatic individuals, particularly if there is a family history and genetic testing has been undertaken, or because testing for iron levels has been undertaken.  Clinical onset will be when there is first evidence of iron overload in organs or relevant symptoms or signs of iron-related dysfunction (and not at birth or when a relevant genetic abnormality is first identified).  The SOP only has factors for clinical worsening.

Clinical worsening

Worsening would generally take the form of an increase in iron overload or organ damage above that which would occur in the normal course of the disease (and with appopriate treatment).  The mainstay of treatment is removal of excess iron via phlebotomy (removal of blood).