Individuals who develop hemochromatosis/iron overload absorb an excessive amount of iron from food and supplements ingested. The abnormality affects many people worldwide, is prevalent in the South, and sometimes causes organ damage when severe iron deposition occurs due to inadequate control of iron absorption by the small intestine.
The first major report of findings in the five-year, 100,000-person study will be published tomorrow, April 28, in The New England Journal of Medicine (NEJM). The University of Alabama at Birmingham received $3.1 million of study funds to screen 20,000 people for the group of disorders called hemochromatosis and iron overload.
Ronald T. Acton, Ph.D., professor of microbiology and director of the UAB Immunogenetics Program, is principal investigator for the Birmingham Field Center that did the screening. James C. Barton, M.D., director of the Southern Iron Disorders Center and UAB clinical professor of medicine, is co-principal investigator. They exceeded the goal of screening 10,000 African-Americans and 10,000 whites for blood iron levels or the presence of mutations in a gene, called the HFE gene, which evidence suggests regulates iron absorption.
"Hemochromatosis and iron overload are easily treatable if diagnosed early, but the simple blood test that could detect these conditions is not performed as part of routine medical exams," said Acton. Delaying treatment the weekly removal of a pint of blood by phlebotomy can permit the progressive accumulation of iron deposits in target organs that may result in complications such as cirrhosis of the liver, liver cancer, arthritis, diabetes, impotence and heart failure.