
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.
Hemocromatosis hereditaria, Adult, Male, 61, missense, TFR2 gene, Iron, Hemocromatosis hereditaria no relacionada con HFE, Hemocromatosis hereditaria relacionada con HFE, GPI-Linked Proteins, Hemocromatosi hereditària relacionada amb HFE, homozygous, HFE related hereditary hemochromatosis; non-HFE related hereditary hemochromatosis; iron overload; missense; nonsense; homozygous; <i>TFR2</i> gene; <i>HFE2</i> gene, Article, Gen TFR2, Receptors, Transferrin, Gen HFE2, Iron overload, Humans, Hereditary HFE-related hemochromatosis, non-HFE related hereditary hemochromatosis, Sobrecarga de hierro, iron overload, Hemochromatosis Protein, HFE related hereditary hemochromatosis, Histocompatibility Antigens Class I, Hemocromatosi hereditària no relacionada amb HFE, Membrane Proteins, Middle Aged, Hemocromatosi hereditària, Pedigree, Sobrecàrrega de ferro, Liver, Codon, Nonsense, nonsense, Hereditary hemochromatosis, Mutaciones, Hereditary hemochromatosis not related to HFE, HFE2 gene, Female, Hemochromatosis, Mutations, Mutacions
Hemocromatosis hereditaria, Adult, Male, 61, missense, TFR2 gene, Iron, Hemocromatosis hereditaria no relacionada con HFE, Hemocromatosis hereditaria relacionada con HFE, GPI-Linked Proteins, Hemocromatosi hereditària relacionada amb HFE, homozygous, HFE related hereditary hemochromatosis; non-HFE related hereditary hemochromatosis; iron overload; missense; nonsense; homozygous; <i>TFR2</i> gene; <i>HFE2</i> gene, Article, Gen TFR2, Receptors, Transferrin, Gen HFE2, Iron overload, Humans, Hereditary HFE-related hemochromatosis, non-HFE related hereditary hemochromatosis, Sobrecarga de hierro, iron overload, Hemochromatosis Protein, HFE related hereditary hemochromatosis, Histocompatibility Antigens Class I, Hemocromatosi hereditària no relacionada amb HFE, Membrane Proteins, Middle Aged, Hemocromatosi hereditària, Pedigree, Sobrecàrrega de ferro, Liver, Codon, Nonsense, nonsense, Hereditary hemochromatosis, Mutaciones, Hereditary hemochromatosis not related to HFE, HFE2 gene, Female, Hemochromatosis, Mutations, Mutacions
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