Early detection and intervention to easily treat hereditary haemochromatosis

Hereditary haemochromatosis is the most common genetic disorder affecting Australians.

One in 200 Australians of northern European heritage are at risk of developing iron overload (Ong et al, 2017) and one in seven will be carriers with one copy of the genetic mutation. If undetected and untreated, haemochromatosis leads to a number of chronic conditions including osteoarthritis, heart disease and severe liver consequences including cancer (Pilling et al, 2019). As many as one in ten (C282Y homozygote) males with undetected and untreated haemochromatosis over their lifetimes will end up with severe liver disease. (Grosse et al, 2017; Atkins et al, 2020).

Tests are simple and cascade screening is recommended for first degree relatives of those already diagnosed. Research (Adris et al, 2018) shows that standard erythrocyte tests where mean cell volume (MCV) and mean haemoglobin volume (MHV) are both elevated may be an early indicator that a patient may have haemochromatosis. Treatment is easy and generally available through LifeBlood’s Therapeutic Donor program. Referrals for therapeutic donors are done online via LifeBlood’s High Ferritin App. Haemochromatosis Health Pathways are now available in 19 Primary Health Networks.

Haemochromatosis Australia (HA) is the peak body providing support for and representing the interests of Australians with hereditary haemochromatosis. HA also provides a range of resources for health professionals on its website including links to the very popular and informative podcast series IronMatters. We have 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. Haemochromatosis: Preventing harm caused by iron overload with timely diagnosis and best practice management, is available on its ThinkGP platform. HA’s credibility as a trusted source of evidenced-based information is underpinned by the exceptional reputations of the eminent members of our medical and scientific advisory panel.

Early detection and intervention are the keys to achieving HA’s mission to ensure that no Australian suffers harm from absorbing and storing too much iron. We encourage you to keep in mind the ‘TEST for haemochromatosis’ message: Tricky to say, Easy to test, Simple to treat, Tragic to ignore.