Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

@article{Mendes2008NonclassicalHH,
  title={Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes},
  author={Ana Isabel Mendes and Ana Ferro and Rute Martins and Isabel Picanço and Susana Gomes and Rute Maria Cerqueira and Manuel Correia and Ant{\'o}nio Robalo Nunes and Jorge Esteves and Rita Fleming and Paula Faustino},
  journal={Annals of Hematology},
  year={2008},
  volume={88},
  pages={229-234}
}
The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this pathology. A mutational analysis of these genes was carried out in 215 Portuguese iron-overloaded individuals previously characterized as non-C282Y or non-H63D homozygous and non-compound heterozygous. The aim was to… 

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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
Other putative mutations in the HFE gene are reviewed and a number of diallelic polymorphisms in HFE introns are documented, showing a significant risk of developing Hereditary hemochromatosis.