Hereditary haemochromatosis should be more widely known about
BMJ 1999; 318 doi: https://doi.org/10.1136/bmj.318.7196.1486a (Published 29 May 1999) Cite this as: BMJ 1999;318:1486
- William Rosenberg, Senior lecturer in medicine (William.Rosenberg@soton.ac.uk),
- Martin Howell, Consultant clinical scientist,
- Paul Roderick, Senior lecturer in public health,
- Diana Eccles, Consultant clinical geneticist,
- Ian Day, Lister Institute professor of human genetics For the Wessex Haemochromatosis Group
- University of Southampton, Southampton General Hospital, Southampton SO16 6YD
- Molecular Immunology Group, Southampton University Hospitals Trust, Southampton SO16 6YD
- University of Southampton, Southampton SO17 1BJ
- Wessex Genetics Centre, University of Southampton, Southampton SO17 1BJ
EDITOR--McCurdie and Perry draw attention to hereditary haemochromatosis, the commonest autosomal recessive genetic disorder in the United Kingdom. 1 2 Estimates suggest that 70 000 people in the United Kingdom have symptomatic hereditary haemochromatosis; only about 3000 cases are recognised. The reason for this mismatch is unclear. As complications of hereditary haemochromatosis are preventable by early diagnosis and treatment, cases should be identified early.
Hereditary haemochromatosis illustrates the differences between diagnostic testing and population screening. When disorders suitable for screening are considered the Wilson and Junger …
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