13 September 2002
Haemochromatosis tests are regularly being misinterpreted, causing anxiety for people who are then wrongly labelled with an inherited disorder, an expert says.
Dr Mark Bassett, director of The Canberra Hospital's gastroenterology unit, said reliance on the HFE gene mutations test as a diagnostic test was at the root of the problem.
'We have seen a tendency to swing away from iron overload to the genetic test to make the diagnosis,' he said.
The HFE test should be combined with iron studies — tests for transferrin saturation and serum ferritin — in order to classify a patient as having hereditary haemochromatosis, Dr Bassett told the Haematology Society of Australia and New Zealand & Australasian Society for Blood Transfusion combined annual meeting in Adelaide earlier this week.
Dr Bassett told Medical Observer he was seeing 4 or 5 referred patients a week who had been misdiagnosed.
'About one-third of people who have 2 of the most common mutations — C282Y — have a positive gene test but no iron overload,' Dr Bassett said.
'In addition, a small percentage of patients with iron overload do not have this gene abnormality and they potentially may be dismissed as not having a problem.'
Last Reviewed: 16 September 2002