We are delighted to share that Haemochromatosis UK was represented at the recent Pulse365 Live: Rare Diseases virtual event, held on 20 May 2025, where our very own Diogo Gomes, Advanced Nurse Practitioner – Information and Advisory, delivered a highly received presentation on “Genetic Haemochromatosis – When to Suspect It in Primary Care, and What to Do” for over 200 GP’s.

Pulse365 Live is a leading platform for primary care professionals across the UK, and the Rare Diseases edition brought together clinicians, researchers, and advocates to spotlight underdiagnosed and often misunderstood conditions, including Genetic Haemochromatosis.

In his session, Diogo highlighted:

• The significant prevalence of Genetic Haemochromatosis in the UK underscores that, despite often being overlooked, it should not be classified as a rare disease.
• The genetic underpinnings and types of Genetic Haemochromatosis.
• The wide spectrum of clinical symptoms, from fatigue and arthritis to cardiomyopathy and diabetes, and the importance of early recognition in primary care.
• Evidence-based approaches to diagnosis, including when to test for Transferrin Saturation and Serum Ferritin, and when to consider genetic testing.
• Latest research findings, including increased risks of liver disease, diabetes, and neurodegenerative conditions even among individuals with normal iron markers.
• Clear, practical advice for GPs on when to refer, and the critical role of family screening.
• Feedback from healthcare professionals attending the talk was overwhelmingly positive.

This session exemplifies Haemochromatosis UK’s commitment to improving clinical awareness and empowering frontline practitioners with the latest research and guidance. As Diogo noted during the talk, “early diagnosis saves lives”, and it is our goal to make this possible through outreach, education, and support.

We would like to thank Pulse365 for including haemochromatosis in their Rare Diseases programme, and all the healthcare professionals who engaged in this vital conversation.

 

We are thankful for the support of The National Lottery Community Fund in England which enables us to engage in a wide range of family support activity.

Published 21/05/2025