Our charity has been pressing for a review of population screening for haemochromatosis, following the Westminster Hall debate in July 2019 on genetic haemochromatosis. The UK National Screening Committee last reviewed the evidence in support of screening for genetic haemochromatosis in 2015. 

So, we welcome the UK National Screening Committee's recent consultation on screening for haemochromatosis in adults, which closed earlier this month.

The UK NSC's current position is that they do not recommend screening for haemochromatosis. This is because, they claim that :

  • although a faulty HFE gene is known to cause iron to build up, this does not happen to every person with a faulty gene
  • screening would identify people who may never experience symptoms
  • there was no evidence to suggest that a screening programme would be effective

Haemochromatosis UK, in collaboration with the Genetic Alliance UK, have made submissions in response to the consultation.

Following recent medical research, our charity believes that there is recent, reliable evidence to show that :

  • there is a relatively high prevalence of GH in the UK, compared to diagnosis rates. Fewer than 1 in 20 people at risk are diagnosed, presently.
  • there are serious health consequences to people who are undiagnosed or diagnosed late in life. Early diagnosis saves lives.
  • existing ad-hoc mechanisms for identifying people at risk of GH and subsequent ill-health are not working effectively.

Consequently, we advocate the implementation of systematic genetic screening for haemochromatosis in adults across the United Kingdom.

Furthermore, we also advocate genetic screening of adults opportunistically in primary and secondary care, for men and women of Northern European ethnic heritage where either :

  • a patient presents with an excess serum ferritin and/or excess transferrin saturation
  • where the patient has a family history of genetic haemochromatosis (first degree relative)
  • where the patient has or is being assessed for liver disease, diabetes, cardiomyopathy, severe joint pain (especially in the second or third metacarpal joints of the hands) and/or chronic fatigue.

Haemochromatosis UK's CEO Neil McClements said "Our scientific knowledge and understanding of the prevalence of GH has improved greatly since the last UK NSC review in 2015. We encourage the UK NSC to weight its consideration of medical research to those more recent and up-to-date studies, published post 2015."

We have published our response to the UK NSC consultation, to encourage dialogue and understanding of the role that genetic screening could play in improving the health of people at risk of haemochromatosis in the UK. We look forward to discussing our response with the UK NSC over the coming months.

Download our response

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