Hereditary Haemochromatosis (HH) is a genetic condition of iron overload, which may result in excess iron stored in the liver, heart, joints and pancreas. Too much iron can lead to serious conditions such as liver cirrhosis, heart problems and diabetes. The genes that cause haemochromatosis (HFE mutations) are inherited, but the majority of people who have the genes never
develop serious problems, particularly if the diagnosis is made early in the course of the disease.
The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene. If you inherit 2 abnormal genes, you may develop haemochromatosis. You can also pass the mutation on to your children. Not everyone who inherits two genes develops problems linked to the iron overload of haemochromatosis. If you inherit 1 abnormal gene, you will not develop haemochromatosis. You are considered a gene mutation carrier and can pass the mutation on to your children.
While HH is present at birth, most people don’t experience signs and symptoms until later in life — typically between the ages of 40 and 60. Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy. Common symptoms include joint pain, fatigue, and weakness.
Treatment includes regularly removing blood from your body. This is called venesection or phlebotomy. Because much of the body’s iron is contained in red blood cells, this treatment lowers iron levels. The amount of blood removed and how often it’s removed depend on your age, your overall health and the severity of iron overload. It may take a year or longer to reduce the iron in your body to normal levels. For further information on HH, see www.haemochromatosis-ir.com