Haemochromatosis: the need for an agreed case definition

Patch, Christine, Roderick, Paul and Rosenberg, William (2005) Haemochromatosis: the need for an agreed case definition. Journal of Hepatology, 43 (5), 911-912. (doi:10.1016/j.jhep.2005.09.001).

Record type: Article

Abstract

We were pleased to read the editorial that accompanied the publication of our study. We would like to address one comment that was made. Professor Olynyk queried our allocation of patients to treatment. We failed to explain clearly that any individuals with ferritin levels above the upper limits of normal who were not offered venesection were monitored with repeat ferritin and transferrin saturation at 3 months, followed by a recommendation to their family doctor for further monitoring or referral for treatment should there be evidence of iron accumulation. This strategy reflects the current clinical uncertainty concerning the natural history of iron overload in patients such as these. Despite attempts to reach consensus over the clinical case definition of haemochromatosis further clinical research is required to determine the prognosis of HFE mutations and iron overload. We would urge clinicians and researchers in this area to consider this problem.

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