The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.

@article{Piperno1996TheAH,
  title={The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.},
  author={Alberto Piperno and Cristina Arosio and Silvia Fargion and A Roetto and C L Nicoli and Domenico Girelli and Luca Sbaiz and Paolo Gasparini and Giuseppe Boari and Maurizio Sampietro and Clara Camaschella},
  journal={Hepatology},
  year={1996},
  volume={24 1},
  pages={43-6}
}
We evaluate the relation between genotype and phenotype in 47 Italian male patients with homozygous genetic hemochromatosis (GH). Phenotype evaluation was based on the ratio of amount of iron removed (IR) by phlebotomy and age (IR/age). Patients were divided in two classes of phenotype expression: class I included 26 patients with less severe iron overload (IR/age <0.33) and class II included 21 patients with a more marked one (IR/age >0.33). Genetic variability was assessed by haplotype… CONTINUE READING
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