Hemochromatosis is a genetic condition, whereby excess iron is absorbed from the diet, the iron slowly accumulates in various organs in the body, causing damage to affected organs.   Men and women are equally affected; however, women tend to have less severe disease than men.

Haemochromatosis is an inherited, autosomal recessive, meaning both of your parents must have a genetic variant on the HFE-gene for you to develop this.

It is the most common inherited genetic condition in Ireland with 1 in 83 people being affected and 1 in 5 carry the genetic variant associated with haemochromatosis.

The most common variants in Ireland are C282Y and H63D, of which the former is associated with most cases.

The HFE gene controls a mechanism which controls the absorption of iron from the gut. This is controlled by the production of a protein hormone (hepcidin) in the liver. Under normal conditions, when levels of iron in the body are adequate, further absorption of iron is stopped by increasing this protein hormone production.

Variant / mutation of the HFE gene leads to deficient production of this protein, resulting in a failure to shut off iron absorption, leading to continuous iron absorption from the gut. Left untreated, iron build up may lead to liver, heart and pancreas and other tissue damage.

Typical symptoms

Accumulation of iron is slow over many years. Symptoms are not apparent until the third or fourth decade in men, and post menopause in women. Symptoms include fatigue and arthritis, especially in small joints of the fingers which can become stiff and restricted. Less common symptoms can include abdominal pain, depression, sexual dysfunction, and bronzing of skin

Individuals affected may not have all symptoms described above and it is important to realise that not everyone gets symptoms; iron build-up may be silent in some individuals.

Diagnosis

Haemochromatosis is diagnosed by blood tests, most notably serum ferritin, which indicates the level of stored iron in the body, and transferrin saturation (%) which indicates the extent to which the iron carrying capability in the blood is full to capacity.

HFE genetic testing should be performed if these levels are elevated.

Importantly, the serum ferritin level also increases in the presence of fatty liver disease (associated with alcohol or obesity), inflammation or infection in the body. When it is unrelated to iron levels, this can be misleading.

Individuals with high serum ferritin and transferrin saturation levels should have genetic testing performed. Additionally, all first-degree relatives of a confirmed case should have a genetic screening.

Treatment

Weekly venesection (a process very similar to that used in giving a blood donation): by removal of 450-500ml of whole blood, until iron levels are restored to normal. Removing blood encourages the body to remove iron that is stored in the body to make new red blood cells. This first stage of treatment is known as de-ironing. When de-ironing is complete, lifelong maintenance begins. Serum ferritin levels will be checked quarterly, and venesection performed as required.

Haemochromatosis cannot be treated by diet, but a normal healthy diet is advocated, particularly a Mediterranean diet. Iron is essential for healthy functioning of the body and should not be eliminated completely. Awareness of the two types of iron, haem iron (animal source, easily absorbed) and non-haem iron (plant source, more difficult to absorb) is important in planning meals. Alcohol should be limited as it reduces hepcidin production which leads to increased iron absorption. Iron enhancers such as vitamin C supplements should be avoided, while inhibitors of iron are promoted; phytates (lentils, grains, wholemeal breads), tannins (tea, coffee), oxalates (spinach, kale, rhubarb); these taken with or after a meal may help reduce iron absorption.

Prognosis

If treatment is commenced in a timely manner before the development of any complications, the prognosis in haemochromatosis is excellent.