HAEMOCHROMATOSIS

Haemochromatosis is a genetic disorder causing the body to absorb excessive amounts of iron from the diet. The excess iron is then deposited in the liver, pancreas, heart, endocrine glands, and joints.

Normally the liver stores a small amount of iron for the essential purpose of providing new red blood cells. When excessive quantities of iron are stored in the liver it becomes enlarged and damaged. Deposits of iron may also occur in other organs and joints, causing serious tissue damage.

Incidence of the disease in Caucasians is 1:400. Genetic Haemochromatosis is now recognised as being one of the most common genetic disorders.

What are the symptoms of haemochromatosis?

Symptoms can be difficult to spot, as they are often mild initially, with many potential causes. Fatigue and lethargy are common, and joint pain or arthritis may occur. Sexual problems, particularly impotence in men or loss of menstruation in women, may be an important early sign.

As the iron overload increases, sufferers may experience the following diseases.

Liver Disease

The liver is the main site of excessive iron build up. The disease causes scarring or liver fibrosis leading to cirrhosis. Symptoms include abdominal pain, jaundice, swelling of the ankles or abdomen and enlargement of the liver or spleen. In severe cases bleeding from the gut or coma can occur.

Heart Disease

Excess iron deposits may lead to one of two heart conditions. These are heart failure (indicated by tiredness, lack of energy, shortness of breath and ankle swelling) and abnormal heart rhythms. Patients may experience extra heart beats known as ectopics or disorders where the heart goes either too fast (tachycardia) or too slow (bradycardia).

Pancreatic Disease

Diabetes Mellitus may be an early sign of haemochromatosis and develops in up to half of all patients with advanced disease. Diabetes is due to excess iron in the pancreas gland damaging the insulin producing cells. This complication together with the dark skin pigmentation that can occur has led to haemochromatosis sometimes being called 'bronze diabetes'.