A 6-year survey of HFE gene test for hemochromatosis diagnosis.
OBJECTIVE
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.
Mura
Catherine
C
INSERM U613 Génétique moléculaire et génétique épidémiologique, UBO, France.
Raguénes
Odile
O
Scotet
Virginie
V
Jacolot
Sandrine
S
Mercier
Anne-Yvonne
AY
Férec
Claude
C
D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003625:Data Collection; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods; D017354:Point Mutation / Q000235:genetics*; D011237:Predictive Value of Tests
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins