Dr Daniel Johnstone, Haemochromatosis Australia
Hereditary haemochromatosis is the most common genetic disorder among Australians of northern European ancestry, with around 1 in 200 having a genetic predisposition to iron overload.1,2 If left unchecked, haemochromatosis can manifest as a range of chronic and potentially fatal conditions, including liver dysfunction and cancer, osteoarthritis and heart disease.3
Fortunately, there are simple measures that can be used to both detect and treat haemochromatosis. Iron indices can be assessed through blood testing by pathology services to identify individuals with existing iron overload; these individuals can then receive a genetic diagnosis through the MBS-listed HFE
gene test and first-degree relatives notified for cascade screening. The standard treatment for haemochromatosis is venesection (i.e. blood donation), and most individuals with a confirmed diagnosis of haemochromatosis are eligible for treatment through Australian Red Cross LifeBlood’s Therapeutic Donor program.4 Through this program, people with haemochromatosis mitigate their disease risk by having their iron stores depleted through blood donation, while at the same time providing a valuable resource for Australian Red Cross LifeBlood to deploy in the treatment of those needing a blood transfusion – a rare win-win situation!
Haemochromatosis Australia (HA) is the peak body providing support for, and representing the interests of, Australians with hereditary haemochromatosis. HA provides a range of resources for health professionals on its website, including links to the very popular and informative podcast series IronMatters. HA has worked with APNA on the development of an accredited online module Haemochromatosis for Nurses and with Reed Medical to develop free online learning modules accredited for CPD by RACGP and ACRRM. This module – Haemochromatosis: Preventing harm caused by iron overload with timely diagnosis and best practice management – is available on the ThinkGP platform (https://www.thinkgp.com.au). HA’s credibility as a trusted source of evidenced-based information is underpinned by the exceptional reputations of the eminent members of its medical and scientific advisory panel.
While the detection and management of haemochromatosis is simple, a lack of community awareness about the condition results in many patients being diagnosed only after considerable organ damage has already occurred. With advances in genomics technologies, it is hoped that a superior, cost-effective screening model can be developed whereby the genetic risk of haemochromatosis is detected early, before the development of iron overload, so that a monitoring plan can be implemented to ensure that iron levels are maintained within safe ranges and individuals never develop iron-related disease. This will be key to achieving HA’s mission: that no Australian experiences harm from absorbing and storing too much iron.
Keep in mind the simple haemochromatosis mnemonic TEST: Tricky to say, Easy to test, Simple to treat, Tragic to ignore.
- Allen et al (2008) Iron-overload related disease in HFE hereditary hemochromatosis. N Engl J Med 358:221-30.
- Olynyk et al (1999) A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 341:718-24.
- Pilling et al (2019) Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ 364:k5222.
- Referrals for therapeutic donors are done online via LifeBlood’s High Ferritin app (https://highferritin.transfusion.com.au)