Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.

@article{Sham1997CorrelationBG,
  title={Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.},
  author={Ronald Lewis Sham and C. Y. Ou and Joseph D Cappuccio and Caroline Braggins and Karin Dunnigan and Pradyumna D. Phatak},
  journal={Blood cells, molecules & diseases},
  year={1997},
  volume={23 2},
  pages={314-20}
}
This report assesses the degree of iron overload in a cohort of patients in relationship to the presence or absence of the recently described 845 G-->A (C282Y) and 187 C-->G (H63D) mutations in the HFE (HLA-H) gene. Sixty-one patients with hereditary hemochromatosis diagnosed either with liver biopsy or on clinical grounds were included in this analysis… CONTINUE READING