"I have Genetic Haemochromatosis" - A Sounding Board member perspective
The response of most people when I tell them that is “What is that? I’ve never heard of it”– which is a bit ironic, as Genetic or Hereditary Haemochromatosis (GH) is in fact the most common inherited single gene disorder affecting people of northern European ancestry, and is particularly common in countries where lots of people have a Celtic background, such as Wales, Ireland, and Scotland.
Haemochromatosis, in simple terms, is an inherited condition where iron levels in the body slowly build up over many years. This build-up of iron is known as ‘iron overload’.
It is estimated that approximately 1 in every 250 to 300 persons is homozygous for the haemochromatosis mutation (that is, will have inherited the same gene variant from both biological parents), and at least 1 in every 10 persons is a carrier for the mutated gene.
With this level of incidence, it cannot, of course, be described as a “rare” condition. And yet, despite those figures, it is a condition that, in my experience, very few people seem to have heard about – and this lack of knowledge does not seem to be confined to the general public. The reports which those suffering from Genetic Haemochromatosis submit to the online forums and support groups confirm that many GPs and other medical practitioners are also often unaware of the condition. One study suggests that most physicians will encounter only a few cases of haemochromatosis during their entire clinical practice. This is probably because, firstly, they are not testing their patients for iron overload, and secondly, because not all patients with haemochromatosis will display symptoms. The most common of these are fatigue, weight loss, erectile dysfunction in men or irregular, stopped or missed periods in women, brain fog, mood swings, depression and anxiety. If the condition is diagnosed and treated early, haemochromatosis does not affect life expectancy and is unlikely to result in serious problems. But if it’s not found until it’s more advanced, the high iron levels can lead to potentially serious complications, such as liver damage (including cirrhosis or liver cancer), diabetes, arthritis, and heart failure.
From experiences shared within support group social media groups, even after diagnosis, access to treatment varies depending on where a person is in the UK. Treatment is very straightforward, consisting initially of venesection (which is similar to giving blood), at a frequency to reduce the iron in the blood to an acceptable level and then continued less frequently (for example 3 or 4 times a year) to maintain those levels.
I was fortunate that my GP recognised the symptoms when I attended my local surgery for my 65-year-old medical MOT, and was they then referred me to the Haematology Clinic at University Hospital of Wales, Cardiff. The initial consultation and the subsequent regular treatment there have been exemplary.
As with so many other genetic conditions, once diagnosed, the affected individual is then faced with sharing their diagnosis with family members and informing them of their own potential risk. In the case of Haemochromatosis, the greatest difficulty is convincing those family members of their need to seek the tests, even though they may not yet be experiencing any of the symptoms. Along with other similar conditions, though they are ultimately life-threatening over the long term, they do not immediately display dramatic and obvious symptoms. In the case of my own immediate family, I have had great difficulty in persuading my two sons to pursue their own diagnoses. My younger son, was prompted to do so only when his wife became pregnant, and therefore a pressing need to discover whether he might have the gene and pass it on to his child – which is a very common prompt to action amongst potential carriers. Most people, it would appear, are otherwise reluctant to submit to testing.
Additionally, because the effects of GH often do not manifest themselves until later in life – particularly in the case of female sufferers, whose iron levels can be affected, by menstruation – it is often difficult to convince family members of the ‘hidden’ danger that the condition poses.
In the future, I’d like to see more widespread recognition of Genetic Haemochromatosis as a condition, which despite being relatively common, I don’t feel gets the attention or publicity it needs. Perhaps this is due to the fact that it doesn’t present ‘dramatic’ or immediate symptoms, with symptoms it does present being easy to confuse with other conditions. The potentially severe, long-term outcomes of the condition, if left untreated, mean that continued education on GH is paramount along with appropriate support for those who have been diagnosed, ideally in the form of genetic counselling.