rss
Gut 2000;46:707-710 doi:10.1136/gut.46.5.707
  • Liver and biliary disease

Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase

  1. M Bhavnania,
  2. D Lloydb,
  3. A Bhattacharyyac,
  4. J Marplesb,
  5. P Eltond,
  6. M Worwoode
  1. aDepartment of Haematology, Royal Albert Edward Infirmary, Wigan, UK, bDepartment of Clinical Biochemistry, Royal Albert Edward Infirmary, Wigan, UK, cDepartment of Medicine, Royal Albert Edward Infirmary, Wigan, UK, dDepartment of Public Health, Royal Albert Edward Infirmary, Wigan, UK, eDepartment of Haematology, University of Wales College of Medicine, Cardiff, UK
  1. Dr M Bhavnani, Royal Albert Edward Infirmary, Wigan Lane, Wigan WN1 2NN, UK email:mba{at}wigan-haem.prestel.co.uk
  • Accepted 22 October 1999

Abstract

BACKGROUND In the UK approximately 1 in 140 people are homozygous for the C282Y mutation of the HFE gene and are at risk from iron overload caused by genetic haemochromatosis (GH). Early detection can prevent organ damage secondary to iron deposition and increase life expectancy.

AIM To screen for GH in all blood samples sent to the laboratory for routine liver function tests in which raised serum alanine aminotransferase (ALT) activity was detected.

METHODS ALT was measured in sera sent to the laboratory for routine liver function tests. In those samples found to have raised activity, transferrin saturation and ferritin were measured followed by genetic testing when transferrin saturation was increased.

RESULTS Of the 35 069 serum samples assayed for routine liver function tests, 1490 (4.2%) had raised ALT levels (>50 u/l). Transferrin saturation and serum ferritin concentrations were measured in these patient samples, and in 56 transferrin saturation was >60%. Further blood samples were requested from these patients for genetic testing: 33 samples were obtained. There were nine patients homozygous for the C282Y mutation of the HFE gene and three compound heterozygotes (heterozygous for both C282Y and H63D mutations).

CONCLUSIONS The association of raised ALT activity and transferrin saturation of >60% could provide a simple, cost effective method for detecting individuals with clinical haemochromatosis. Although many patients with GH may have been missed, this study suggests that the clinical penetrance of the disorder may be much lower than is generally supposed and that genetic screening will identify many people who may never develop clinical haemochromatosis.

Footnotes

  • Abbreviations used in this paper:
    GH
    genetic haemochromatosis
    ALT
    alanine aminotransferase

This Article

  1. Abstract
  2. Full text
  3. PDF

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.