Haemochromatosis awareness
World Haemochromatosis Week 1st - 7th June
We are a UK registered, volunteer run, charity called Haemochromatosis International (HI), dedicated to raising worldwide awareness of a condition known as Genetic Haemochromatosis (GH).
GH is the most common genetic disorder affecting people with Northern European ancestry, particularly those with Celtic heritage, it is therefore very prevalent in the UK and is particularly common in Ireland. In people with the genetic propensity GH can lead to too much dietary iron being absorbed and stored in the body. Undiagnosed, this can cause significant organ damage, potentially leading to problems like cirrhosis of the liver, diabetes and pituitary issues. GH also causes a type of arthritis which particularly, but not exclusively, occurs in the hands, feet and ankles of those affected.
Symptoms of haemochromatosis
Although the genetic mutation which causes haemochromatosis is inherited, by no means everybody with the mutation will go on to load iron, the reasons for this are poorly understood. In those that do, symptoms may not become apparent until a person is aged 30 to 40 years, depending on rate of loading. Women may have some initial protection due to loss of iron in menstruation and pregnancy, with symptoms more prevalent post menopause. When symptoms do appear, they may include the following:
- tiredness, fatigue or lack of energy – very common
- pain in the joints, especially in the knuckles and in the joints of your first two fingers, ankles and feet – also very common
- pain in your stomach or abdomen
- loss of libido (sex drive) and possibly
- impotence or early menopause
- evidence of liver damage from scarring (fibrosis) and cirrhosis
- cardiomyopathy (disease of the heart muscle)
- type 2 diabetes
- a yellowing or ‘bronzing’ of the skin
Untreated GH can lead to serious, possibly fatal, outcomes but, if people are diagnosed early enough with GH, there is an effective treatment which involves having units of blood removed at regular intervals, rather like being a blood donor. This process is called venesection. The intervals between venesections may be quite close at first while excess iron stores are removed but, once levels are normalised, treatments can be several months apart, depending on the individual, this phase is called maintenance. Once a patient reaches maintenance it is often possible for them to have blood taken as as a regular blood doner. Sadly too few people in the UK with the genetic pre-disposition for iron overload know that their health may be at risk because of the condition. GH is under-diagnosed, partly because public awareness of the condition is low but also because its initial symptoms, including fatigue, depression and joint pain, may be confused with a range of other illnesses, how many times a day does the average GP see someone with one or more of those symptoms?
When someone is diagnosed with GH, it is important that they inform all first-degree relatives, so that they can be screened for the condition. The importance of early diagnosis cannot be stressed too highly if people are to avoid problems later in life, as iron stores slowly increase to toxic levels.
Membership of Haemochromatosis International is open to any patient organisation or support group working for people affected by the condition. Membership provides an opportunity to share resources and experiences, to learn from each other and to advocate more strongly within and across national borders for screening and treatment. Haemochromatosis International has sixteen member organisations worldwide and is still expanding. From 1-7th June every year, we hold World Haemochromatosis Week when we try to bring GH to the attention of the public.
We are running a “Light Up Red” campaign by trying to get buildings and monuments illuminated in red in the UK and around the world. Last year we managed to get 243 buildings illuminated worldwide. We are hoping to improve on this in 2024 and are also mounting a poster campaign with a QR code on the poster linking to our website.
