On 27th April, medical journal The Lancet published an article about genetic haemochromatosis (GH) in which the (male) authors stated that only "young men" should be screened for the condition.

The article has provoked widespread dismay and concern across the GH community.

Men and women of all ages came together to condemn the proposals. Within days, over 1,400 people from across the UK and further afield co-signed an open letter to The Lancet criticising the suggestion to limit screening to “young (>18 years) White men with homozygous C282Y genotypes”.

The GH community was supported in their criticism by political representatives from both Houses of Parliament at Westminster including Rt Hon Sir John Hayes CBE MP and Ben Lake MP, Chair and Vice-Chair of the All-Party Parliamentary Group on Genetic Haemochromatosis, Lord Peter Hendy of Richmond Hill, Sarah Olney MP and Lord John Hendy KC.

Louise Fish, CEO of the Genetic Alliance UK, a coalition of over 230 rare and genetic charities wrote in support of Haemochromatosis UK's position, noting that : "People with lived experience of genetic haemochromatosis and many clinical experts who work with them are clear that people of all ages and both men and women could benefit from screening. It would enable early diagnosis leading to treatment addressing debilitating symptoms such as chronic fatigue and poor mental health that are hard to measure in clinical trial settings."

Haemochromatosis UK was also supported in expressing concerns by the Breaking Down Barriers network, an alliance of over 80 UK charities and patient groups committed to addressing health inequalities to improve NHS care. 

Members of the GH community expressed their concerns with scarcely contained fury.

Ian from Bamton in Oxfordshire was scathing : “What a ludicrous article. I was diagnosed at sixty . Do I not matter?“

Eileen from Preston spoke for many when she observed “I am appalled at the Lancet’s findings. People of both sexes are dying.”

Noting that as an autosomal condition, both men and women have a chance of inheriting genetic haemochromatosis from their parents, Simon from Faversham was critical “Surely screening should not be limited by gender? Sounds like going back to the dark ages. I’m surprised at The Lancet, they really should do better than that.”

Dr Rick Thompson, CEO of Rare Beacon, a UK-based non-profit organisation that is building a united rare disease community with patient groups at its heart, was puzzled by the Lancet proposals - "The key thing from my side is understanding a justification for their recommendation, which seems to be unnecessarily narrow and harmful to the diverse population living with the condition. If the limited screening is being recommended based on a health economic argument, this needs to be spelled out, and they need to clearly demonstrate a lack of selection bias in their sample that skews findings towards young white men.”

Academic Controversies Continue to Cause Patient Harm

This is the latest in a series of academic papers that purport to offer an authoritative analysis, without any reference to the patient voice - those in the community that will be affected by the proposals.

“It’s an outdated and ignorant attitude by the medical profession - yet again women are excluded from testing and acknowledgement, equal care. It’s seen as an old man’s disease but sadly there are too many of them in the decision making field...” noted Roberta from Northwich.

 “The Lancet advice is confusing and unhelpful. This is my general experience whilst being treated by the NHS.” chimed Kevin from Warrington.

Our charity knows from surging demand for support via our helplines that many people of all ages with GH are not receiving the care they are entitled to. Many people are being denied care, based on clinical confusion stirred by academic controversies including claims (based on UK Biobank research by Melzer et al) that only men experience serious ill-health from GH and claims that only C282y homozygotes (and not compound heterozygotes or H63D homozygotes) experience ill-health from iron overload.

Louise Fish of GAUK, of which HUK are a member, explained : "Genetic Alliance UK believes that screening decision-makers need to involve people with lived experience of health conditions more, alongside clinical experts, to ensure better informed decisions. This approach would be consistent with international best practice and the approach taken by other evidence-based decision-makers in the UK such as NICE and the SMC."

Calls To Look at The Evidence - All of It...

Our charity has clear evidence of considerable numbers of compound heterozygotes and H63D homozygotes experiencing iron overload within our community. Hundreds signed our letter to The Lancet in support. Many are receiving active treatment within the NHS. By accepting the established academic narrative that only C282Y homozygotes are at risk of ill-health and by not screening for these pathogenic variants, non-C282Y homozygotes are unfairly disadvantaged. Their health may be put  at risk by being denied the life-enhancing and for some, life-saving care that they deserve. In light of this, our organisation would challenge the validity of this position.

Some clinicians insist that “iron overload” is only a risk when demonstrably, phenotypically observed – by which time it is often too late to prevent or reverse serious disease. Yet families at risk of GH well understand the value of preventative healthcare.

Lee in Liverpool agrees, “As well as helping with general health of individuals by knowing if people have it at an age it can be managed and so prevent potential organ damage, debilitating fatigue etc long term it would benefit the finances of the NHS as the long term impacts of GH would not need to be rectified to any great degree if screening were implemented.”

Learning By Doing - The Voluntary Sector Approach

Over the past two years, our charity has become one of the largest HFE genetic testing organisations in Europe. We know from our work across the UK that people of all ages can benefit from screening. Both men and women are affected by GH-induced ill-health, so everyone should have a chance to be screened.

Our charity’s position is that it’s much better to pro-actively screen for HFE pathogenic genotypes and arrange monitoring or treatment, as necessary, than to demand the presence of harmful iron levels, before taking action.

Haemochromatosis UK CEO, Neil McClements whose family are affected by genetic haemochromatosis, said “Clinically robust and publicly acceptable screening programmes will only be successful if they genuinely embrace ongoing engagement with communities at risk, like ours.”

Read the open letter

Note : if you are concerned or affected by these proposals, please contact your local elected representatives to bring this to their attention. We have templates, tips and guidance on how to raise your concerns on our website.