Haemochromatosis leaflet AK.doc

Haemochromatosis leaflet AK.doc - North East Thames...

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Hereditary haemochromatosis This leaflet is written for people with hereditary haemochromatosis and their family members and for people with genetic test results that suggest they could develop hereditary haemochromatosis . What is hereditary haemochromatosis? Hereditary haemochromatosis (HH) is a treatable inherited condition where the body absorbs too much iron from the diet. When too much iron builds up in the body this is known as iron overload . The excess iron is stored in the liver and other organs of the body such as the pancreas, heart, endocrine (hormone producing) glands and joints. Why is the amount of iron in the body important? A small amount of iron is stored in the liver and is essential for health, as it is needed when new red blood cells are formed. However when too much iron is stored in the liver, the liver becomes enlarged and damaged. Excess iron may also be stored in other organs and joints, causing damage. What are the symptoms of hereditary haemochromatosis? Constant tiredness, weakness, lethargy Abdominal pain Joint pain (arthritis); this can affect any joint but commonly affects the knuckle and first joint of the first two fingers Late onset diabetes Cirrhosis of the liver (scarring of liver tissue that damages liver function) Bronzing of the skin, like a permanent tan Loss of libido Irregular heartbeat People with HH can have no symptoms for many years. What age do people develop hereditary haemochromatosis? The onset of HH is normally between 30 and 60 years, as the build up of iron takes many years. However, women tend to develop HH later in life than men. The reason for this is that before the menopause, having periods (menstruation) regularly removes blood, and therefore iron, from the body. So before the menopause women do not accumulate so much iron in their bodies as men do. What causes hereditary haemochromatosis? Hereditary haemochromatosis is caused by changes in a gene known as HFE. We all have about 25,000 pairs of genes inside every cell of our body. Our genes are the instructions that tell our body how to grow and develop. We inherit one copy of each gene from our mother and the other copy from our father and when we have children we pass on one copy of each of our genes and our partner provides the other.
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