Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney

Int J Hematol. 2007 May;85(4):300-3. doi: 10.1532/IJH97.E0605.


Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure. Molecular studies have shown that hemochromatosis type 1 is predominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are observed mostly after 40 years of age, often in men. We report the unusual case of a 16-year-old girl with an elevated serum iron level and a hypoplastic kidney. Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1. The early detection of hemochromatosis in the presented case may delay organ damage and failure due to iron overload.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution*
  • DNA Mutational Analysis
  • Female
  • Hemochromatosis / blood
  • Hemochromatosis / complications
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Heterozygote*
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron / blood
  • Kidney Diseases / blood
  • Kidney Diseases / complications
  • Kidney Diseases / genetics*
  • Membrane Proteins / genetics*
  • Mutation, Missense*


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron