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A tale of two sisters
  1. D R Gaya1,
  2. A L C McLay2,
  3. K A Oien3,
  4. R J Spooner4,
  5. T G Reilly1
  1. 1Department of Gastroenterology, Hairmyres Hospital, Lanarkshire G75 8RG, UK
  2. 2Department of Pathology, Hairmyres Hospital
  3. 3Department of Pathology, Glasgow Royal Infirmary, Glasgow G4 0SF, UK
  4. 4Department of Biochemistry, Gartnavel General Hospital, Glasgow G12 0YN, UK
  1. Correspondence to:
 Dr D Gaya
 Flat1/2, 15 Julian Avenue, Kelvinside, Glasgow G12 0RB, UK;


Hereditary haemochromatosis is the most common inherited disorder in white populations, whereas non-alcoholic steatohepatitis (NASH) is becoming the most common reason for referral for investigation of abnormal liver function tests (LFTs). This report describes two sisters, from similar environments, who were referred to the clinic after being found to be C282Y homozygotes and to have abnormal LFTs. One sister had developed features of haemochromatosis and the other had developed NASH. These cases illustrate the potential non-penetrance of HFE gene mutations and the need to investigate abnormal LFTs fully, even when there is a positive genetic test at the outset.

  • genetic haemochromatosis
  • non-penetrance
  • non-alcoholic steatohepatitis
  • liver biopsy
  • ALT, alanine aminotransferase
  • AST, aspartate aminotransferase
  • BMI, body mass index
  • γGT, γ glutamyl transpeptidase
  • LFT, liver function test
  • NASH, non-alcoholic steatohepatitis

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