Novel method for molecular detection of the two common hereditary hemochromatosis mutations

Genet Test. 2000;4(2):125-9. doi: 10.1089/10906570050114821.


We describe a novel molecular screening technique for hereditary hemochromatosis through which HFE genotypes at codon positions 282 and 63 are simultaneously detected. The technique combines multiplex PCR and denaturing high-performance liquid chromatography (DHPLC) and allows automated high-throughput analysis. We used this method to genotype 43 previously characterized anonymous DNA specimens in blinded fashion and found multiplex PCR/DHPLC 100% accurate when compared with PCR/restriction enzyme digestion, yet far more efficient.

MeSH terms

  • Base Sequence
  • Chromatography, High Pressure Liquid / methods
  • Codon
  • DNA Primers
  • Genetic Carrier Screening
  • HLA Antigens / genetics*
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Membrane Proteins*
  • Mutation*
  • Polymerase Chain Reaction / methods


  • Codon
  • DNA Primers
  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins