Related Experiment Videos
[Genetic diagnostic test for hemochromatosis]
D E Undlien1, H Bell, H E Heier
1Institutt for transplantasjonsimmunologi, Rikshospitalet, Oslo.
Haemochromatosis is an inherited, recessive trait and is among the most common genetic diseases in Norway. It is caused by a pathological increase in the absorption of iron from the intestine. This in turn leads to excessive deposits of iron in the organs of the body, e.g. in the liver and pancreas, with concomitant symptoms and frequently organ failure. The mutated gene (HFE), which causes the vast majority of cases of haemochromatosis, has recently been described in a study from the U.S. Based upon this finding, we have established a genotyping protocol for this mutation. We discuss our preliminary experiences using this test as a diagnostic tool, as well as the implications of how it will affect diagnosis. The test is of considerable value, and we suggest that its use should be mandatory in the diagnosis of haemochromatosis.
Haemochromatosis is an inherited, recessive trait and is among the most common genetic diseases in Norway. It is caused by a pathological increase in the absorption of iron from the intestine. This in turn leads to excessive deposits of iron in the organs of the body, e.g. in the liver and pancreas, with concomitant symptoms and frequently organ failure. The mutated gene (HFE), which causes the vast majority of cases of haemochromatosis, has recently been described in a study from the U.S. Based upon this finding, we have established a genotyping protocol for this mutation. We discuss our preliminary experiences using this test as a diagnostic tool, as well as the implications of how it will affect diagnosis. The test is of considerable value, and we suggest that its use should be mandatory in the diagnosis of haemochromatosis.