A 6-year survey of HFE gene test for hemochromatosis diagnosis

Genet Med. 2005 Jan;7(1):68-73. doi: 10.1097/01.gim.0000151153.21369.63.

Abstract

Purpose: A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis.

Methods: We analyzed C282Y, H63D, and S65C mutations on 3525 individuals.

Results: The test produced 89.7% and 30% of positive results for individuals clinically diagnosed hemochromatosis before HFE gene-test availability and those prospectively tested because of elevated serum iron parameter and/or family history, respectively; among them there were 90.4% and 48.7% of C282Y homozygotes.

Conclusions: The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • DNA Mutational Analysis* / methods
  • Data Collection
  • Female
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Diagnostic Techniques* / methods
  • Point Mutation / genetics*
  • Predictive Value of Tests

Substances

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