New developments in hereditary hemochromatosis

The iron content of the body is normally tightly controlled by regulation o f iron absorption. in hereditary hemochromatosis, mutation of an HLA class 1 gene, designated HFE, results in excessive iron absorption. Over many yea rs, accumulating iron produces tissue damage, most notably cirrhosis, cardi omyopathy, diabetes, and arthropathies. Hereditary hemochromatosis is the m ost common hereditary disease of Northern Europeans with a prevalence of ap proximately 5 per 1000. The most sensitive screening test for hemochromatos is is saturation of the transferrin with iron; a fasting value greater than 50% is strongly suggestive of the disease. Confirmation of increased iron storage can be achieved most readily by serial phlebotomy. We do not regard liver biopsy to be indicated, except in unusual circumstances. Early diagn osis and treatment by phlebotomy before tissue damage has occurred is essen tial, because life span seems to be normal in treated patients but markedly shortened in those who are not. Therefore, genetic counseling with evaluat ion of first-degree relatives is mandatory.