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What is haemochromatosis?

Q: I have a ferritin level of 1218 ng/ml, my iron level is 169 and a GGTP of 83. Obviously, something is wrong with my liver. Just how high are high levels of ferritin? I am 56 years old weighing 58 Kgs. I am suspecting haemochromatosis?

A:Haemochromatosis is a disorder characterised by a progressive increase in total body iron stores with abnormal iron deposition in multiple organs. The disease may be primary (a genetic disorder) or secondary (resulting from other disorders). In primary disease the body has a propensity to absorb excess iron due to a genetic defect, which then accumulates in different organs of the body. Liver is the organ most affected by primary haemochromatosis and in untreated individuals results in cirrhosis or even cancer of the liver. The disease also affects the pancreas (leading to diabetes), pigmentary changes of the skin, joint problems and heart involvement. Screening for the disease is done by measuring the ferritin levels in blood and the transferrin saturation but definitive diagnosis requires liver biopsy and genetic testing. Transferrin saturation is an early pointer to the disease with values higher than 60% in men and 50% in women being highly specific though the test may be affected by any inflammation in the body or another liver disease. The cut-off values for serum ferritin are more than 200 µg per litre (ng/ml) (pre-menopausal women) and more than 300 µg per litre (ng/ml) (post-menopausal women & men). This test too may be affected by inflammatory states, infections and liver disease. Ferritin values greater than 1000 µg per litre (ng/ml) suggest liver damage. Genetic testing for the mutation will confirm the disease in a patient with iron overload. Treatment is by repeated blood-letting (phlebotomy), avoiding iron preparations and alcohol and some dietary products (red meat, some sea foods etc.). Please consult your doctor who will advise a liver biopsy and tests for mutation.


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