Hereditary Hemochromatosis: Are We Ready for Population Screening?

Hemochromatosis is a blood disorder in which the body builds up too much iron, damaging tissues and organs. In the United States, over 650,000 (1 in 300) non-Hispanic whites are homozygous for the C282Y mutation in the HFE gene, the most common genetic cause of hemochromatosis. However, few people with the C282Y mutation were previously thought to get the disease.

Dr. Melzer will discuss his recent work analyzing the health of 451,000 UK Biobank population-based volunteers. His work showed that non-Hispanic white men who were homozygous for the C282Y mutation were more likely to be diagnosed with hemochromatosis, liver disease, diabetes mellitus, or arthritis and 1 in 5 had excess diagnoses of these conditions by an average age of 63 years. In C282Y homozygote older men (aged 60 to 70), there were also increase rates of frailty, sarcopenia, chronic pain, and polymyalgia rheumatica diagnoses. In white non-Hispanic women who were homozygous for the C282Y mutation, 1 in 10 had excess diagnoses of the associated diseases. The iron overload seen in hemochromatosis can be treated, and even prevented, through phlebotomy. However, many with the condition do not know they have it and are not treated until after the iron overload has caused permanent damage. Is it time for population-based screening for the C282Y mutation?

Please join us to discuss how public health can best address this preventable burden of disease.