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Tuesday, January 22, 2008

Haemochromatosis

Haemochromatosis

Haemochromatosis (HC) also called the 'bronze diabetes' is a disorder in iron metabolism. Iron is an element essential for maintaining good health, particularly for synthesizing haemoglobin, a protein complex present in red blood cells, which carries oxygen. While lack of iron can cause anaemia, too much of it can cause excessive buildup in tissues resulting in damage and disease. In haemochromatosis there is excessive absorption of iron resulting in primary iron overload. This is primarily an inherited disorder. Deposition of body iron may also be caused by excessive destruction of abnormal red cells(eg. Thalasemia major and haemolytic anaemia) and this condition is called secondary haemochromatosis. Primary HC is caused by mutation of the HFE gene which in turn results in excessive iron absorption from the diet. This mutation is known as C282Y. Usually one needs to inherit two sets of the defective gene from each parent to manifest the disease. It is more common amongst the white race where 1 out of 300-400 people are affected. Commonly men in the age group of 30-60 years manifest the symptoms in a slow onset, though children may be affected by a rapid onset of the disease.

Symptoms are usually mild and include fatigue, lethargy and joint pain. Impotence in men and loss of menstruation in women are some of the important early signs.

Multi system organ damage: Liver is usually the site of maximum iron deposition. Liver damage leads to scarring and cirrhosis. Symptoms include jaundice, bleeding, coma, abdominal pain with swelling of the ankles and the abdomen. Excess iron deposit I the heart leads to heart failure and rhythm disturbances. Half the patients develop diabetes due to damage of the pancreas. Rarely thyroid gland dysfunction and neurological disease may manifest. The diagnosis is by the spectrum manifested clinically along with raised serum iron and serum ferritin levels and by liver biopsy.


Treatment: Venesection is a traditional therapy where frequent blood letting is done to reduce the total body iron stores over months. Medicines that chelate iron may also be used. Those with established liver cirrhosis need liver transplantation.

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