Author: Vanessa Ngan, Staff Writer, 2005.
Haemochromatosis is a genetic iron storage disease in which the body absorbs excessive amounts of iron from the diet. Excess iron is usually metabolised and excreted from the body, but in haemochromatosis, excess iron is deposited in the liver, pancreas, heart, endocrine glands and joints.
Haemochromatosis is ten times more common in males than in females and usually presents at between 40 and 60 years of age.
Haemochromatosis is caused by mutations in the HFE gene with autosomal recessive inheritance. Two mutations identified in the HFE gene are C282Y and H63D. Haemochromatosis is the most common single-gene inherited disorder in whites, with one in ten persons carrying one abnormal gene.
The four main features characterise haemochromatosis are:
How does haemochromatosis affect the skin?
Patients with haemochromatosis may develop one or more of the above symptoms over a period of time as iron slowly accumulates and deposits in organs. Often the disease is not diagnosed until routine blood tests show elevated blood iron levels. Patients often seek help because of tiredness, abdominal discomfort, joint pains, and general malaise experienced over a prolonged period of time.
Several tests can be done to confirm the diagnosis of haemochromatosis.
Treatment of haemochromatosis consists of regular removal of blood and is similar to making a blood donation (venesection therapy or phlebotomy). Every mL removed contains a 0.5 g of iron. Depending on the amount of iron overload the procedure may initially be performed once weekly or once monthly. This regularity of treatment continues until serum ferritin levels fall back to normal; this may take up to 2 years or more. After this, lifelong maintenance therapy needs to be set in place as excess iron continues to be absorbed. On average venesection is required every 3–4 months to prevent build-up and maintain healthy levels. Regular monitoring of serum ferritin, transferrin saturation, haematocrit and haemoglobin is necessary throughout the treatment process.
It is essential to detect haemochromatosis as early as possible so that venesection can be instituted to prevent the build-up of iron and potential complications. Once complications such as diabetes and cirrhosis have developed, they cannot be reversed. Tiredness and abdominal pain should diminish, and increased pigmentation of the skin should fade over time once treatment has started. Arthritis, however, may fail to improve with venesection.
Haemochromatosis cannot be treated with a low iron diet. However, some foods affect the way the body absorbs iron. The following dietary tips may play a small part in reducing the symptoms of the disease.
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