November 6, 2024

World-first haemochromatosis registry will be transformative

New resource is expected to deliver substantial benefits to patients, caregivers, clinicians, and researchers

University of Wollongong Honorary Professor Liz Milward says a world-first Australian Haemochromatosis Registry will serve as a transformative resource in studying the condition and developing treatments.

The Australian Haemochromatosis Registry, funded by the Australian Department of Health and Aged Care, is going live on Friday 1 November and is the first of its kind in the world.

Designed to improve health outcomes for Australians, the Registry aims to provide invaluable insights into haemochromatosis, a common genetic iron overload disorder that affects over 150,000 Australians and is associated with serious and sometimes life-threatening health conditions.

Haemochromatosis can lead to conditions such as prostate, breast, and liver cancers, diabetes, arthritis, and cardiovascular disease. Recent research from the UK BioBank has also linked haemochromatosis-related genetic variants to approximately double the risk of Parkinson’s disease, dementia, and delirium.

These findings highlight the critical importance of tracking and understanding the effects of haemochromatosis on brain health.

Professor Milward, a recognized authority in brain iron research, has been a driving force behind understanding these impacts. Named an “Iron Woman” by Haemochromatosis International for her contributions to the field, Professor Milward says the Australian Haemochromatosis Registry will serve as a transformative resource in studying neurological conditions among Australians with haemochromatosis.

“Haemochromatosis affects both sexes, usually by mid-later life and sometimes at younger ages. If picked up early, it’s often possible to prevent many problems by managing iron levels with blood donation or medical treatments,” Professor Milward said.

“Yet because of the wide range of conditions that can arise with haemochromatosis, it often goes unrecognized until serious health issues have developed. Although it runs in families, this is not always apparent as different family members do not always show the same symptoms.”

“This registry provides a means to study these patterns and develop targeted treatments for the particular conditions experienced by different individuals.”

The Australian Haemochromatosis Registry will gather de-identified health data from patients, facilitating new clinical research and trials to develop therapies for the variety of health issues associated with haemochromatosis-related gene variants. It is expected to deliver substantial benefits to patients, caregivers, clinicians, and researchers.

For people living with haemochromatosis, the Registry will be a valuable tool.

Samuel Dawes, a committee member of Haemochromatosis Australia and a patient, said: “The registry will improve patient and research outcomes, ultimately reducing the health impacts and costs of haemochromatosis. It will help those of us with the condition learn more about its potential impact on future generations and support us in managing our health effectively.”

Participation is crucial for the Registry’s success. A diverse pool of health and lifestyle data will lead to richer insights and better outcomes, ultimately enabling the development of effective treatments. For the initiative to succeed, it’s important that large numbers of patients participate to represent the full spectrum of conditions involved.