Helping patients understand hereditary haemochromatosis

By Karin Calford, from Haemochromatosis Australia

Hereditary haemochromatosis is a condition affecting 1 in 180 people of Anglo-Saxon background. Left undetected it can have a significant impact upon the health and wellbeing of an individual.  GPs are well placed to not only make an early diagnosis, but to improve patient understanding and experience by sharing quality patient resources at the point of care.

Individual patient presentation may occur due to a family member being diagnosed with the condition or following incidental pathology results. The patient’s reason for presentation and their health literacy suggests the sorts of ideas, concerns and expectations that may be held by an individual patient.

Some  points to consider:

  • Dietary iron intake is a common concern of patients found to have inherited iron overload. Whilst removing all iron from the diet is neither practical nor wise, it is understandable a patient may initially feel they want to do this.
  • Providing patients with appropriate information can help the uptake of cascade screening for a genetic condition the family may otherwise be unaware of. Containing simple and brief information, the Haemochromatosis Australia Family Letter is ideal for a family member to take to their own GP to discuss testing (1).
  • Overall, HFE gene-testing will reveal many unaffected heterozygotes and relatively fewer compound heterozygotes or homozygotes. It’s important for any individual given HFE gene test results to receive advice regarding the inheritance of the condition, and their likelihood of developing iron overload (2).
  • A temporary moratorium on genetic tests in Life Insurance came into effect from July 1 this year, giving some certainty to patients worried about the impact of HFE gene testing upon life insurance (6).
  • The general and non-specific symptoms that may occur because of inherited iron overload can also be caused by other conditions. Helping a patient understand which symptoms may or may not resolve with venesection, and why, is helpful.
  • Ferritin is an acute phase reactant, with ninety per cent of hyperferritinaemia not related to iron overload (3). It is easy for a patient with hyperferritinaemia to mis-understand the relevance of this. There is no evidence that therapeutic venesection is helpful in patients with hyperferritinaemia who do not have iron overload (haemochromatosis).
  • A significant proportion of those with inherited iron overload are eligible to become therapeutic donors with the Australian Red Cross Lifeblood (formerly the Australian Red Cross Blood Service). Therapeutic donors are referred to Lifeblood via the High Ferritin App (4). Endorsed by Haemochromatosis Australia, this app has considerably streamlined this referral process for patients.
  • Whilst therapeutic donors have reported that they love knowing their blood can be used, they may donate with some anxiety.   Around 80 per cent of donations from haemochromatosis patients is used to manufacture blood and blood products for the Australian community. This has been shown to be very safe (7).
  • Therapeutic donors can be encouraged to join their state-based Haemochromatosis Australia LifeBlood team (5). This simultaneously affirms that those meeting eligibility criteria may donate with Lifeblood, and helps these donors feel they are a part of something worthwhile.

Providing every newly diagnosed patient with reputable, trusted patient resources at the point of care may help increase individual understanding of the condition, improve self-management, and reduce unfounded worries.

The  new My Iron Manager App is available for free download to Apple and android devices (8). The app has links to information on hereditary haemochromatosis and allows patients to record blood test results, treatment history and record appointments.  This plus more information and resources can be found at    Patient information and resources are also contained within the WAPHA Hereditary Haemochromatosis HealthPathway.


  7. Hoad, Bentley, Bell, Pathak, Chan and Keller. The infectious disease blood safety risk of Australian hemochromatosis Transfusion 2016; 56; 2934–2940