CHAPEL HILL – Low-income people in western North Carolina will be tested over the next two years for hemochromatosis, the most common genetic illness in North America, through a new University of North Carolina at Chapel Hill public service and research effort.
Although the condition – a deficiency in the way the body processes iron – appears in all ethnic groups, it is most common in people of Celtic descent – those with Scottish and Irish ancestors, said Dr. Rebecca J. Laudicina, associate professor of allied health sciences at the UNC-CH School of Medicine. About one in eight people carries the trait, and it affects about one in every 200.
"The Scottish and Irish settled the mountains of North Carolina, and so we're expecting to find a fairly high incidence of the disorder there," Laudicina said. "We'll screen people and then do follow-up laboratory and genetic testing when we find people with elevated iron levels."
The Kate B. Reynolds Charitable Trust is sponsoring the two-year project with a $200,000 grant. An educational program for health-care providers through the N.C. Area Health Education Centers Program will precede screening, which will cover 14 western N.C. counties.
"Physicians and other health-care providers learn about this disease, but they don't learn how common it is," the researcher said. "Unlike conditions such as cystic fibrosis, which are apparent almost from birth, hemochromatosis develops primarily in adults. The gene was only identified in 1996."
People with the illness absorb iron too readily, and eventually the mineral poisons them, Laudicina said. It can damage their liver, pancreas, joints and heart muscle. It also can lead to arthritis, diabetes and liver cancer and often is missed by health professionals.
"This is an ideal disease to screen for because we may be able to pick it up before chronic health conditions develop," she said. "There's a very safe, low-cost and effective treatment for hemochromatosis."
Treatment consists of going to a doctor's office and donating a pint of blood every week or two at first and then less often once excess iron has been removed, Laudicina said. Eventually patients may need to have blood removed only every month or so.
"People don't need to take a dangerous drug with a lot of side effects," she said. "They just get rid of excess red blood cells and therefore excess iron."
"One of the reasons we're doing this work is because Medicare and Medicaid do not pay for many laboratory screening tests, including this one," Laudicina said. "We want to change the perception that hemochromatosis is a rare disease and one that affects chiefly men." Counties where free screening will take place are Buncombe, Burke, Caldwell, Cherokee, Clay, Graham, Haywood, Jackson, Macon, Madison, Stokes, Swain, Transylvania and Yadkin. Screening, which will follow the educational effort, will be at county health departments, hospitals, senior centers and other locations.
The Reynolds Trust, created in 1947 and based in Winston-Salem, designates three-fourths of its income for health-related programs and services across North Carolina and one-fourth for the poor and needy of Winston-Salem and Forsyth County.
Note: Laudicina can be reached at 919-966-3011 (w), 942-4444 (h) or blaudicina@css.unc.edu.
Contact: David Williamson
david_williamson@unc.edu