Routine health check identified a hidden genetic condition that could have led to life-changing organ damage

When Julie James, 69, from South West Wales, booked her first routine health assessment with Bluecrest in early 2024, she believed she was simply being cautious about her heart health.

As both of her parents died from heart disease, Julie wanted reassurance that her own heart health was in good shape.

“I had no symptoms at all,” Julie says. “I just thought it was worth getting checked. I mainly wanted the ECG because of my family history. When my heart results came back absolutely fine, I thought that would be the end of it.”

But one other result stood out.

Julie's blood test revealed an elevated serum iron level of 34.1 µmol/L, exceeding the normal reference range of 9–30 µmol/L. This red flag prompted Julie to investigate further, and a subsequent NHS blood test identified an abnormally elevated ferritin level of 554 µg/L, well above the normal range for adult women (11–310 µg/L), suggesting increased iron stores. Despite these findings, haemochromatosis - a genetic condition that causes the body to absorb too much iron - was initially considered unlikely.²

As the condition can cause irreversible organ damage over time if left untreated, timely action was vital.

“The GP said it was rare and he’d never had a patient with it before,” Julie explains, despite the condition directly affecting around 380,000 people in the UK.3 “But my husband, who is a retired GP, had been reading up on it and felt there was enough there to investigate further.”

As the weeks turned into months waiting for specialist genetic testing, Julie became increasingly concerned about what prolonged iron overload could be doing internally – especially as the condition is significantly under-diagnosed in the UK.3

“We knew excess iron can affect the liver, heart and other organs,” she says. “The difficult thing was that I still felt absolutely fine, but I got a private MRI to be sure there was no damage.”

Then fourteen weeks after her genetic test was sent away for analysis, Julie was diagnosed with hereditary haemochromatosis; Julie had inherited the faulty gene from both parents, despite no known family history of the condition.

By this stage, Julie’s ferritin levels had climbed significantly higher, reaching 798 ug/L. She was referred to a consultant haematologist and began regular venesection treatment – a process whereby up to a pint of blood is removed to lower iron levels.

The haemochromatosis diagnosis also forced major lifestyle changes. Julie immediately stopped drinking any alcohol and cut out red meat and other iron-rich foods.

Over the course of a year, as a result of regular venesections and dietary modification, Julie’s ferritin levels gradually reduced until she finally reached her target of 50 ug/L. She now attends regular monitoring appointments every three months to keep the condition under control.

Julie has since joined the Haemochromatosis Society, where she has connected with other patients living with the condition. Hearing some of their experiences made her realise how fortunate she was to catch it before permanent organ damage occurred.

“Some people became very seriously ill before it was discovered,” she says. “I feel incredibly lucky mine was picked up when it was. I’ve met people whose organs have been badly affected because it wasn’t caught early enough.”

Now, with her iron levels under control and regular monitoring in place, Julie hopes to encourage more people to prioritise preventative health checks – even when they feel well.

“Looking back, I’m so grateful I got tested when I did. Who knows, I could have ended up with liver damage or other nasty conditions – especially as I was asymptomatic.”

References

1. NHS North Bristol. Ferritin. Available at: https://www.nbt.nhs.uk/severn-pathology/requesting/test-information/ferritin

2. NHS. Hemochromatosis. Causes. Available at: https://www.nhs.uk/conditions/haemochromatosis/causes/

3. Hemochromatosis UK. Diagnosis. Available at: https://www.haemochromatosis.org.uk/diagnosis-and-care-by-gps