Tuesday 16 January 2018

Am I at risk of inheriting haemochromatosis?

Ask the GP...

HH can be diagnosed by a simple blood test
HH can be diagnosed by a simple blood test

Nina Byrnes

Advice from our GP on Hereditary Haemochromatosis (HH) and on the causes of bad breath and how to treat it.

Q. My older brother, who lives abroad, recently found out that he has haemochromatosis, a genetic disorder of the blood. My other sibling got tested and was given the all-clear, and my parents, who were both found to be carriers of the faulty gene, do not have the condition. I think I should get tested, too, but don't know if my GP will be able to help or if I should go see a blood specialist. I read somewhere that men are more likely to be carriers than women - so is there less of a chance that I will have inherited the defective genes? Are there any signs or symptoms that I should be looking out for?

Dr Nina replies: Hereditary Haemochromatosis (HH) is a genetic condition in which the body absorbs too much iron. This condition is particularly common among the Irish population. In most parts of Europe, one in 400 people will develop the condition, but one in five people of Celtic origin carry the gene, meaning it occurs in approximately one in 80 people here.

Haemochromatosis is sometimes referred to as the Celtic Curse due to its high levels in this population. The body can only store so much iron. When the stores become full up, any extra circulating iron gets deposited in various organs, such as the pancreas, liver and heart. If the levels continue to increase and the condition goes untreated, it can cause irreversible, potentially fatal, organ damage.

HH usually shows itself in the fourth or fifth decade of life. Men and women are equally likely to carry the gene but pre-menopausal women are protected from iron build-up and symptoms due to blood loss in pregnancy and menstruation. After menopause iron levels can climb more rapidly. A diet high in food supplements or in alcohol (which increases iron absorption) can cause symptoms earlier in life.

Symptoms may include tiredness, muscle and joint pain, abdominal discomfort, reduced libido or sexual dysfunction, diabetes and darkening of the skin. If iron overload increases unchecked, the skin may become more bronzed and diabetes, cirrhosis and heart problems can follow.

HH can be diagnosed by a simple blood test, which your GP can arrange. It is a genetic test so you must consent to this. Results can take several weeks to come back. If you are diagnosed as having haemochromatosis, treatment is surprisingly simple. The level of ferritin in blood is an indicator of body iron stores. Once this climbs above a certain level, treatment is indicated. This involves regular blood letting called venesection. This is akin to the process of giving blood. Venesection is normally arranged in a hospital out-patient setting. Because HH blood is iron-rich and otherwise healthy, those who are being treated can opt to donate their blood through the Irish Blood Transfusion Service. If iron levels are very high, treatment is usually weekly. Ferritin levels are then monitored and further treatment is based on these results. HH is a genetic condition. In order to have the condition you must inherit a gene from each parent so they have to be carriers at least. If both parents carry the gene, there is a one in four chance that each child will have HH and a one in two chance they will carry the gene. Siblings of those affected need to be screened. Partners of those who are carriers or have HH should also be checked, and if they are carriers children will ultimately need screening.

Treatment, once commenced, is life-long, but if iron levels are kept within normal limits, organ damage is unlikely and life expectancy is normal. There are other causes of high ferritin levels without high iron saturation, so it is important that both tests have been carried out.

A simple infection, inflammation or alcohol can cause the ferritin levels to climb quite high and this is not haemochromatosis.

Q. What are the causes of bad breath and is there any medicine to cure it?

Dr Nina replies: The medical term for bad breath is halitosis. It is extremely common and is thought to affect most people at some stage in their lives. Coffee breath and cigarette breath can be particularly unpleasant. We have all experienced garlic breath at some stage. Onions and spicy foods can also cause halitosis. Alcohol breath is often most pronounced the next morning.

Morning breath occurs due to the fact that we produce less saliva at night. Our mouths become drier. This allows food debris and dead skin cells that are normally washed away to accumulate. Bacteria work on these producing the familiar unpleasant smell.

Any disease of the mouth can cause halitosis. Bacteria colonising the tongue can produce sulphur compounds and may cause halitosis.

Those who suffer with chronic sinus problems and congestion may have increased levels of bacteria present, which can affect breath. These people also tend to mouth breathe. This leads to a dried mouth, which is another cause of halitosis. Other respiratory conditions can also contribute.

Acid reflux or stomach problems are another cause. Helicobacter pylorus is a bacteria that can live in the stomach and lead to conditions such as heartburn or gastritis. Treating these conditions can improve breath in some people.

To manage halitosis, ensure you have good gum and dental health and to have any active dental disease treated. Drink plenty of water. Avoid smoking and drinking too much coffee. Brush your teeth and tongue regularly. Use a daily antibacterial mouth wash (chlorhexidine). Floss your teeth daily.

Visit your doctor to be assessed for any sinus, throat or gastrointestinal problems. A course of medicine to eradicate stomach acid may help.

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