Related Experiment Video
Updated: Aug 3, 2026
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
A 6-year survey of HFE gene test for hemochromatosis diagnosis
Catherine Mura1, Odile Raguénes, Virginie Scotet
1INSERM U613 Génétique moléculaire et génétique épidémiologique, UBO, France.
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.
