Hemochromatosis, one of the most common inherited disorders among Caucasians, can lead to iron overload, or a buildup of iron in the body's organs. This extra iron, which can be easily treated if detected early, can increase the risk of diabetes, arthritis, sexual dysfunction, liver disease and liver cancer and heart disease.
When the study is completed, researchers hope to have answers to the key questions that will help policymakers decide whom should be screened for hemochromatosis and iron overload, when should they be screened, and what screening methods should be used.
At the start of the study in 1999, it was known that most cases of hemochromatosis in Caucasians result from a mutation in the hemochromotosis (HFE) gene. The mutation, known as C282Y, was first discovered in 1996. Little was known about iron overload in other racial and ethnic groups.
Surprisingly, results of the Hemochromatosis and Iron Overload Screening Study (HEIRS) show that Asians and Pacific Islanders had the highest blood iron levels but the lowest prevalence of HFE mutations. The full results of the screening study appear in the April 28 issue of the New England Journal of Medicine.
Wake Forest University School of Medicine was the coordinating center for the study, which recruited more than 100,000 participants in primary care settings and seven blood drawing laboratories in the United States and Canada.
The five-year study is funded by the National Heart, Lung, and Blood Institute and the National Human Genome Research Institute. Other major findings of the study include the following: