The researchers investigated the concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families.
They published their findings in the September issue of the Journal of Hepatology.
A total of 35 C282Y homozygous and 35 C282Y heterozygous same-sex sibling pairs were included in the study. Iron indices were compared in these.
The authors also attempted to clarify whether concordance between siblings was due to environmental or genetic factors. Comparing the iron indices of 164 C282Y homozygous-normal, same-sex dizygotic twins accomplished this.
It was found that serum ferritin, hepatic iron concentration, and hepatic iron index were highly concordant in C282Y homozygotes.
| Heterozygote siblings concordant for serum ferritin and transferrin saturation.
| Journal of Hepatology |
Furthermore, heterozygote siblings were concordant for serum ferritin and transferrin saturation.
Homozygote-normal same-sex dizygotic twins were concordant for serum ferritin, but not for transferrin saturation.
Author Peter W. Whiting, of the Princess Alexandra Hospital, Brisbane, said on behalf of his group, "Concordance of iron indices exists in C282Y homozygote and heterozygote sibling pairs.
"Siblings of expressing C282Y heterozygotes require phenotypic assessment."
"These data provide evidence for modifying genes influencing disease expression in hemochromatosis," he concluded.