Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis

Rev Esp Enferm Dig. 2011 Jul;103(7):379-82. doi: 10.4321/s1130-01082011000700010.
[Article in English, Spanish]

Abstract

Iron overload disease has a wide variety of genotypes. The genetic study of this disease confirms its hereditary nature and enables us to provide genetic counseling for first-degree relatives. We performed magnetic resonance imaging and liver biopsy in an asymptomatic patient with more than 1,000 µg/L of serum ferritin and studied the genes involved in this condition. The phenotype of iron overload is confirmed by a predominantly periportal pattern of iron deposits in the liver suggestive of genetic disease. In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • DNA / genetics
  • Ferritins / blood
  • Hemochromatosis / genetics*
  • Hemochromatosis / pathology
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron / blood
  • Iron / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Receptors, Transferrin / genetics*
  • Receptors, Transferrin / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transferrin / urine

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Transferrin
  • TFR2 protein, human
  • Transferrin
  • DNA
  • Ferritins
  • Iron