the uk's most common GENETIC condition
Genetic haemochromatosis is the UK’s most common genetic condition, directly affecting almost 1.2 million people in the UK. Although it is commonplace, the condition is significantly under-diagnosed in the UK. The NHS is caring for just 20,000 people with genetic haemochromatosis.
Untreated the condition can lead to iron overload, where the body is unable to process excess iron. Excess iron is extremely toxic. Genetic haemochromatosis can cause liver disease, cancer, heart disease, chronic fatigue, diabetes, severe joint pain, sexual health issues and neurological issues.
People living with the most common form of genetic haemochromatosis have significant health risks :
- ten times the risks of liver cancer in men
- twice the risk of dementia in men
- double the risk of arthritis
- 50% more likely to suffer pneumonia or diabetes
- twice the risk of death from sepsis
How common is it?
The prevalence of Genetic haemochromatosis (GH) varies across the UK. In Northern Ireland around 1 in 10 people are at risk, in England & Wales its about 1 in 150 people and in Scotland around 1 in 113 people are at risk.
There are thought to be over 160 genetic variants that can cause iron overload. There are several known types of the condition, the most common of which is typically an adult onset condition (known as HFE or type 1 GH).
Other "non-HFE" forms of GH are less common, and include a juvenile variant (known as type 2), a TFR2 variant (type 3) & Ferroportin Disease (type 4). The NHS rarely tests for these variants, so their true prevalence is unknown.
What are the symptoms?
Genetic haemochromatosis (GH) affects everyone differently. Both men and women can develop iron overload because of genetic haemochromatosis.
Excess iron (caused by iron overload) is extremely toxic and can affect many parts of the body. Many people experience one or more symptoms. But some people don't experience any noticeable symptoms as a result of genetic haemochromatosis.
- Chronic fatigue, weakness, lethargy
- Arthritis; may affect any joint but particularly common in the knuckle and first joint of the first two fingers
- Abdominal pain; sometimes in the stomach region or the upper right hand side, sometimes diffuse
- Neurological/psychiatric disorders; impaired memory, mood swings, irritability, depression
- Sexual disorders; loss of sex drive, impotence in men
- Absent or scanty menstrual periods and early menopause in women
- Bronzing of the skin, or a permanent tan, or grey tone
- Cardiomyopathy; disease of the heart muscle
- Diabetes (late onset type)
- Pituitary or adrenal issues (eg Addison's Disease)
- Liver disorders; abnormal liver function, enlarged liver, cirrhosis, liver cancer
- Sepsis/bacterial infections : people with some types of genetic haemochromatosis are at significantly increased risk of sepsis and bacterial infections
Learn more about symptoms
how do i know if i'm at risk?
Genetic haemochromatosis can be diagnosed following a genetic test. This test looks at specific genes to determine whether someone has genetic haemochromatosis and therefore has a risk of developing iron overload.
Our charity provides
genetic testing by post. Order a test online, return a small blood sample and within 7 days we will contact you and your GP with the results. We provide follow-up genetic counselling to explain the results, too.
To arrange a genetic test by post, click the button.
Is genetic haemochromatosis treatable?
There's no cure for genetic haemochromatosis. But diagnosed early, haemochromatosis is manageable and not life-limiting.
For people with iron overload, treatment is simple and cost effective; primarily through regular phlebotomy or blood donation. Most people with genetic haemochromatosis can be blood donors. This blood can be used to help others.
