There are three main stages of GH:

  • Predisposition – having the HFE gene variants without iron overload
  • Iron overload without evidence of organ damage
  • Iron overload with organ damage.

People with GH and develop symptoms can be affected in different ways. Symptoms develop as iron slowly builds up, so are more likely to occur during adult life. Some symptoms can also be caused by other illnesses, but a combination of two or more symptoms listed below indicates that GH is possible.

  • Fatigue: Chronic fatigue, lethargy, being continually tired or weak
  • Abdominal pain: sometimes in the stomach region or the upper right-hand side, sometimes diffuse (spread out over a wide area)
  • Arthritis: may affect any joint but particularly common in the knuckle and first joint of the first two fingers. If arthritis is found only in the first two finger joints this is highly suggestive of genetic hemochromatosis
  • Sexual Problems: impotence, loss of libido
  • Pituitary issues
  • Hair loss from head or body
  • Liver disorders: abnormal liver function, enlarged liver, cirrhosis, liver cancer (hepatocellular carcinoma)
  • Diabetes
  • Heart problems: Irregular heartbeat, shortness of breath and cardiomyopathy
  • Menstrual problems: Scanty or irregular periods, early menopause
  • Neurological/psychiatric disorders; dementia, impaired memory, mood swings, irritability, depression
  • Skin: Bronzing of the skin, often mistaken as a permanent tan, or grey tone

An example of skin bronzing

An example of hand arthritis

As the human body can cope well with some extra iron so not everyone who is predisposed to GH will load iron or have symptoms. Damage to organs usually only occurs when there is a large amount of stored iron and takes many years or decades for this to build up. Therefore, anyone who is diagnosed with GH but not receiving treatment should have their iron levels checked annually.

Please note because of the non-specific nature of some of the symptoms i.e. tiredness/fatigue it can be attributed to other causes such as anaemia, joint pains attributed to age, lifestyle, or menopause. Therefore, it can be many years before a diagnosis is accurately made which increases the risk of developing serious complications. The most severe cases of genetic haemochromatosis involve organ failure.

Organs affected by iron overload

Watch this video (5 minutes) of "Hoppy" talk about his liver cancer diagnosis & symptoms, following iron overload caused by genetic haemochromatosis :

Watch this video (1 minute) of Marguerite talking about her symptoms of iron overload :

Watch this video (1 minute) of Katharine explaining her symptoms as a young woman with iron overload :

Learning points

  • In GH, as iron levels increase, iron is deposited in all organs, including the skin. However, as the liver is the body’s storage place for iron, liver damage usually precedes damage in other organs
  • GH causes generic symptoms and because of the non-specific nature of these symptoms it can take many years for a diagnosis to be made. Hence the importance of nurses knowing about this condition to prompt early testing
  • Not everyone diagnosed with GH will go on to develop iron overload

Next steps