Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.

@article{Speletas2008AnalysisOS,
  title={Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.},
  author={Matthaios Speletas and Anna Kioumi and Gedeon Loules and Prodromos Hytiroglou and John Tsitouridis and John I Christakis and Anastasios E Germenis},
  journal={Blood cells, molecules & diseases},
  year={2008},
  volume={40 3},
  pages={353-9}
}
Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype). In previous studies, the mutational analysis of SLC40A1 gene has been performed at the genomic DNA… CONTINUE READING