We have collated many of the frequently asked questions about genetic haemochromatosis with answers here, for ease of reference.

If you have a question that hasn't already been answered, contact one of our helplines.

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Question - What is this Rash? Is it PCT?

          

The Porphyria’s are a group of rare metabolic conditions that can either be acquired or genetic. One type of Porphyria is known as Porphyria cutanea tarda or PCT.  PCT is caused by a deficiency of an enzyme called uroporphyrinogen decarboxylase (UROS) which is essential to the production of haem in the making of blood. This deficit causes a buildup of chemicals called Porphyrins, which are produced in the liver and causes the skin to become light sensitive. The British Association of Dermatologists have produced a patient information leaflet, which details causes, symptoms, diagnosis and treatment.

PCT - the link with GH

As detailed above, PCT can be inherited. However, in 20% of UK patients PCT can also be caused by Genetic Haemochromatosis¹   Symptoms described include blisters, sores, milia (white spots) fragile skin, excessive fine hair growth and changes in skin colour. As well as skin problems, urine may be noticeably dark in colour. Diagnosis is confirmed by measuring porphyrins in samples of blood, faeces and urine.

For those with GH, treatment of choice will be venesection to reduce the high iron levels which in turn settles the skin condition over time. People may remain light sensitive and should still protect their skin from direct sunlight.  Support can be found with the British Porphyria Association.

¹ http://porphyria.org.uk/

It is worth noting that PCT can be an important skin marker for patients with mutations of the HFE gene and therefore genetic testing should be carried out for GH on people who present with PCT in the first instance.²

²Association of porphyria cutanea tarda with hereditary haemochromatosis J Am Acad Dermatology 2004 Aug;51(2):205-11

Question - Is there a link to the menopause and GH?

There is a blurring of symptoms of Genetic Haemochromatosis (GH) and those of the menopause- most commonly fatigue, neurological disorders- such as impaired memory, mood swings, irritability, depression and sexual health concerns for example- loss of libido and irregular periods. Unless there is a recognized family history, the symptoms of GH are quite often misdiagnosed in pre/peri and post-menopausal women upon presentation to a GP.

It is less common for women to present with GH during their reproductive years, since their iron concentration is kept within a normal range through menstruation. During pregnancy, there is a demand for iron to aid and support the function of the placenta and the growing foetus. Whilst in childbirth there is often associated blood-loss.

This reproduction cycle helps to protect women from iron overload, as it can take many years for iron to build up to damaging levels in the body. Hence, it why when women reach menopause, they start to feel the effects of iron overload and present to Primary care. By raising awareness of the symptoms of GH to GPs and the wider population, it is hoped that it becomes more common practice to include iron panel blood tests for this group of people and to consider genetic testing if results are outside the normal range.

Question - Is there a link between GH and diabetes?

Diabetes is generally attributed to lifestyle factors and in most cases, this is quite appropriate. Indeed, a recent article, published in the Guardian from Diabetes UK showed that the number of people under 40 diagnosed with Type 2 Diabetes has jumped a staggering 23% in the period 2016/17 to 2020/21. Their Chief Executive, Chris Askew, concurs that there are multiple risk factors for Type 2 diabetes - including genetics.

Recent Research conducted by Professor David Melzer and his team at Exeter University Medical school (2019) revealed the number of additional cases of diabetes every year in the UK caused by Genetic Haemochromatosis (GH). For men, the excess number of cases diagnosed were 2,580 and for women the number was 552.

It is our belief, at Haemochromatosis UK, that a significant number of people with diabetes will be experiencing symptoms of GH and should be investigated and tested for iron overload, especially those with a family history of Haemochromatosis. The identification and treatment of GH in diabetic patients resulted in significant improvement, with 84% of respondents to a Haemochromatosis UK survey, reporting that symptoms of diabetes were alleviated by de-ironing.

Research frequently notes that there is a relationship between iron stores and insulin sensitivity, demonstrating that stored iron has a negative impact on insulin action, which may have an impact on a patient’s diabetic control and need for increased medication.  This also tells us that there is significant potential to reduce the burden on our highly pressured healthcare services. Analysis from the Haemochromatosis UK ’Cost of illness’ report⁴ showed that chronic conditions, like Type 2 diabetes has excess costs of £17.95 million per year. Early diagnosis not only saves lives- it also saves money.

We have further information on diabetes and genetic haemochromatosis in our InfoZone.

Question - can iron overload affect the eyes?

A few people have contacted the charity to ask about iron deposits in the eye. We contacted the Royal College of Ophthalmologists to ask for their opinion.

They pointed to a study that suggests that ‘ocular manifestations of Haemochromatosis may cause visual changes such as diminished visual activity due to pathological changes in the cornea and retina.’¹  

This is discussed in another study specifically looking into the effects of excess iron on the retina. The retina was ‘traditionally assumed to be protected from high levels of systemic iron overload by the blood-retina barrier, but that recent data shows that expression of genes that are associated with haemochromatosis can disrupt retinal iron metabolism. The effects lead to several disorders- most notably age-related macular degeneration’²

Menghini et al (2108) ³  studied a group of patients with GH and failed to demonstrate any links.  However, some case report studies have offered a contrast to that research, but reliable data and evidence is still limited.

Haemochromatosis UK advises that an individual informs their optician of their GH diagnosis and current treatment/levels. By doing so, their optician will be minded to observe any changes in relation to iron deposits,  during examination.

References

¹https://eyewiki.org/Ocular_Manifestations_of_Hemochromatosis_and_Iron-Overloaded_States

²https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851357/

³ Menghini M PC, Krahenbuhl PA, Nowak, A^,. Assessment of Drussen and other retinal degenerative changes in patients with hereditary haemochromatosis. Retina (Philadelphia. Pa) 2018; 38: 594-599

Question - can iron overload affect the teeth and mouth health?

The pathogenic bacteria responsible for Periodontitis (gum disease) responds positively to the increase in levels of iron and this may promote the bacteria to reproduce at a more rapid rate, so there could be an acceleration of the rate of disease progression.

This is worrying; however, the good news is that if the iron levels are acceptable and the oral hygiene is good the periodontal condition is not affected.

The key is good oral hygiene, it would most probably be worth advising regular check-ups and personalised oral hygiene instruction.

Pauline Christy, Dental Hygienist, GCAP

Question - do I need special travel insurance if I have genetic haemochromatosis?

The Association of British Insurers has a code of practice which prevents insurers denying cover to people with genetic haemochromatosis. There are many travel insurance companies offering cover. We recommend disclosing your genetic haemochromatosis and any other ill-health when seeking a quotation or renewal, to ensure you are fully covered during your trip.