HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening

Genet Test. 2007 Fall;11(3):269-75. doi: 10.1089/gte.2007.0003.

Abstract

We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire responses, transferrin saturation (TfSat), serum ferritin (SF), and HFE genotyping. In eight homozygotes, we used denaturing high-performance liquid chromatography and sequencing to search for HFE2 (= HJV), TFR2, HAMP, SLC40A1 (= FPN1), and FTL mutations. Sixteen of 4,008 White or Hispanic participants aged 25-29 years had C282Y homozygosity (15 White, 1 Hispanic); 15 were previously undiagnosed. Eleven had elevated TfSat; nine had elevated SF. None reported iron overload-associated abnormalities. No deleterious non-HFE mutations were detected. The prevalence of C282Y homozygosity in White or Hispanic HEIRS Study participants aged 25-29 years did not differ significantly from the prevalence of C282Y homozygosity in older White or Hispanic HEIRS Study participants. The prevalences of reports of iron overload-associated abnormalities were not significantly different in these 16 C282Y homozygotes and in HFE wt/wt control participants aged 25-29 years who did not report having hemochromatosis or iron overload. We conclude that C282Y homozygotes aged 25-29 years diagnosed by screening infrequently report having iron overload-associated abnormalities, although some have elevated SF. Screening using an elevated TfSat criterion would fail to detect some C282Y homozygotes aged 25-29 years.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antimicrobial Cationic Peptides / genetics
  • Apoferritins
  • Cation Transport Proteins / genetics
  • DNA Mutational Analysis
  • Female
  • Ferritins / genetics
  • Genetic Testing
  • Genotype
  • Hemochromatosis / blood
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Hepcidins
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote*
  • Humans
  • Iron Overload / blood
  • Iron Overload / diagnosis
  • Iron Overload / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Receptors, Transferrin / genetics

Substances

  • Antimicrobial Cationic Peptides
  • Cation Transport Proteins
  • FTL protein, human
  • HAMP protein, human
  • HFE protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Transferrin
  • TFR2 protein, human
  • metal transporting protein 1
  • Ferritins
  • Apoferritins