Should asymptomatic haemochromatosis be treated?Treatment can be onerous for patient and doctorCommentary: False certainty of clinical guidanceCommentary: Early treatment is essentialBMJ 2000; 320 doi: https://doi.org/10.1136/bmj.320.7245.1314 (Published 13 May 2000) Cite this as: BMJ 2000;320:1314
Should asymptomatic haemochromatosis be treated?
Genetic testing now allows haemochromatosis to be diagnosed before symptoms emerge. Testing is potentially beneficial because early treatment of iron overload is the only way to prevent organ damage. Treatment by venesection is, however, lengthy and can have a detrimental effect on quality of life, and not all patients with the mutation will develop symptoms. A general practitioner and her patient describe their experience of treatment of asymptomatic haemochromatosis and ask whether it was really necessary. Their experiences are commented on by a general practitioner and a consultant haematologist.
Treatment can be onerous for patient and doctor
- Clare J Seamark, general practitioner (email@example.com),
- Margaret Hutchinson, retired headmistress
- Honiton Group Practice, Honiton, Devon EX14 2NY
- 45 Canonbury Park South, London N1 2JL
- Queen's University of Belfast, Belfast City Hospital, Belfast BT9 7AD
- Correspondence to: C Seamark
- Accepted 7 February 2000
The development of genetic testing for disease has raised the problem of whether to test asymptomatic individuals.1 2 Hereditary haemochromatosis is one such disease for which testing is possible. The associated gene, HFE (previously HLA-H), was identified in 1996 together with two mutations C282Y and H63D.3 The C282Y mutation is present in about 90% of known cases inthe United Kingdom.4 The condition may be more prevalent (possibly one in 300) than previously thought. Patients do not usually develop symptoms until they are over 40 years old, by which time deposition of iron in organs such as the liver, pancreas, heart, and endocrine systems may have caused irreversible tissue damage.5–7 Repeated venesection is an effective treatment and can restore normal life expectancy in people with no evidence of organ damage. In women the onset may be later as menstruation provides physiological blood loss.
In 1997, MH was 67 and had had type 2 diabetes for five years. The disease was well controlled with an oral sulphonylurea. She took part in a study (which had ethical approval) to look at the genetic aetiology of diabetes and the role of haemochromatosis. She was found to be homozygous for the C282Y mutation. She was informed of this as she …