Compound Heterozygous Hemochromatosis: Long-Term Outcomes

People with C282Y/H63D mutations in the HFE gene were no more likely than people with neither mutation to develop hemochromatosis-related morbidity.

Hemochromatosis, a common genetic disorder characterized by iron overload, is usually caused by mutations in the HFE gene. The C282Y homozygous genotype is the mutation most often implicated in the disorder; C282Y/H63D compound heterozygosity has been less well studied. To learn more about clinical outcomes associated with this heterozygous profile, researchers in Australia studied 31,192 people of northern European descent who were participants in a prospective, population-based study of the effects of diet and lifestyle on common chronic diseases.

All participants provided detailed medical histories, underwent physical exams, had baseline and follow-up blood samples drawn, and were genotyped for the HFE C282Y mutation (and if they were car…

Reviewing Author

Atif Zaman, MD, MPH