The significance of haemochromatosis gene mutations in the general population: implications for screening.

@article{Burt1998TheSO,
  title={The significance of haemochromatosis gene mutations in the general population: implications for screening.},
  author={Michael JacksonAndrew Burt and Peter Myles George and Jeanette Upton and Judith A Collett and Chris Frampton and T. M. Chapman and Trevor A. Walmsley and Bruce A. Chapman},
  journal={Gut},
  year={1998},
  volume={43 6},
  pages={830-6}
}
BACKGROUND Haemochromatosis is associated with mutations in the HFE gene but the significance of these mutations in the general population is unknown. AIMS To determine the frequency of HFE gene mutations in the general population, their effect on serum iron indexes, and their role in screening for haemochromatosis. METHODS Deoxyribonucleic acid (DNA) from 1064 randomly selected subjects was analysed for the C282Y and H63D mutations in the HFE gene. Serum iron, transferrin saturation, and… CONTINUE READING

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