Haemochromatosis

Genetic blood testing, managing venesections and follow up of patients with haemochromatosis

 

Haemochromatosis is a genetic disorder where an excessive amount of iron is absorbed from the diet. Normally the liver stores iron for the essential purpose of providing new red blood cells with iron. When excess quantities of iron are stored in the liver it becomes enlarged and liver function becomes impaired. Surplus amounts of iron may also be deposited in the heart, pancreas and kidneys.

Iron builds up slowly so the symptoms may not appear for many years. There is no typical pattern of presentation. Most sufferers will complain of fatigue and exhibit changes in skin pigmentation. The additional symptoms will depend on which target organs are affected. For example, if the pancreas is affected then the patient may complain with symptoms of diabetes. If the heart is affected the patient may complain of a variety of heart related symptoms. These may include decreased exercise tolerance or disturbances of heart rhythm. Sometimes the joints may be affected.

Given the diverse pattern of presentation diagnosis is usually triggered by a strong index of suspicion on the part of the attending doctor. The diagnosis is based on blood analysis. Tests include serum ferritin and transferrin saturation.