A tale of two sisters

Gaya, D., McLay, A., Oien, K., Spooner, R. and Reilly, T. (2004) A tale of two sisters. Journal of Clinical Pathology, 57(4), pp. 439-441. (doi: 10.1136/jcp.2003.012013)

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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.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Oien, Professor Karin
Authors: Gaya, D., McLay, A., Oien, K., Spooner, R., and Reilly, T.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Journal of Clinical Pathology
Publisher:BMJ Publishing Group Ltd.

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