Hemochromatosis and Iron Overload in a Diverse Primary-Care Population

Iron overload can be caused by genetic and environmental factors, and it can lead to end-organ injury. Hemochromatosis, specifically homozygosity for the C282Y mutation, is . . .

Iron overload can be caused by genetic and environmental factors, and it can lead to end-organ injury. Hemochromatosis, specifically homozygosity for the C282Y mutation, is a common genetic disorder associated with significant iron overload. Investigators from the Hemochromatosis and Iron Overload Screening (HEIRS) study report findings from the screening stage of this U.S. multicenter, multiethnic study of 99,711 primary care patients (age, ≥25), who were recruited during 2 years.

Race, ethnicity, and medical history were self-reported. Blood samples were tested for mutations of the HFE gene, ferritin level, and transferrin saturation. Overall, 299 participants (0.3%) were homozygous for the C282Y mutation; prevalence was highest in non-His…

Reviewing Author

Atif Zaman, MD, MPH