Haemochromatosis (HH)

What is Haemochromatosis?

• A genetic condition, whereby excess iron is absorbed from the diet

• 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

How did I develop this?

• 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

• 1 in 83 people are affected

• 1 in 5 carry the genetic variant associated with Haemochromatosis

• The most common variants in Ireland are C282Y and H63D

• C282Y is associated with most cases of haemochromatosis

How does the iron accumulate?

• Under normal conditions the HFE-gene senses when levels of iron in the body are adequate, and stops any further absorption by increasing hepcidin (a protein hormone that stops iron absorption) production by the liver.

• When there is a variant/mutation on the HFE-gene, it consequently leads to deficient production of this protein, resulting in a failure to produce hepcidin and shut off iron absorption, leading to continuous iron absorption in the gut

What are the symptoms of Haemochromatosis?

Accumulation of iron is slow over many years. Symptoms are not apparent until third or forth decade in men, and post menopause in women. Symptoms include:

• Fatigue

• Arthritis (especially in small joints of the fingers which can become stiff and restricted)

• Less common symptoms include abdominal pain, depression, sexual dysfunction, and bronzing of skin

Individuals affected may not have all symptoms described above.

• Left untreated iron build up may lead to liver, heart and pancreas damage.

• It is important to realise, not everyone gets symptoms, and iron build-up may be silent in some individuals.

How is haemochromatosis diagnosed?

• Blood tests

• Serum ferritin (an iron binding protein that indicates the level of stored bodily iron). Importantly, the serum ferritin level also increases in the presence of fatty liver disease (associated with alcohol or obesity) or inflammation or infection in the body (when it is unrelated to iron levels, and can be misleading)

• Transferrin Saturation % (which indicates the amount of iron attached to the transferrin protein involved in the transport of iron from the gut to the blood stream, and around the body)

• HFE genetic testing should be performed if these levels are raised

Who should be tested?

• All first degree relatives of a confirmed case should have a genetic screening

• Individuals with high serum ferritin and transferrin saturation levels should have genetic testing

Do I need to change my diet?

• Haemochromatosis cannot be treated by diet alone

• A normal healthy diet is advocated- particularly Mediterranean

• 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 dificult to absorb).

• Alcohol should be limited (reduces hepcidin production and increases iron absorption)

• Iron enhancers, i.e. vitimain C supplements should be avoided.

• Inhibitors of iron are promoted, for example Phytates (lentils, grains, wholemeal breads, Tannins(tea, coffee), Oxalates(spinach, kale, rhubarb); these inhibitors taken with or after a meal, may help reduce absorption of iron.