Gene Linked to Type of Anemia Is Isolated

Scientists have identified a gene that might someday help them diagnose an unusual kind of anemia and treat a more common problem of too much iron in the body.

Researchers found that in mice and rats, the gene tells the body how to make a protein that lets the body absorb iron from food.

Defects in the human version of this gene may cause some cases of iron-deficiency anemia, said one of the researchers, Dr. Nancy C. Andrews of the Howard Hughes Medical Institute and Children’s Hospital in Boston.

Most cases of this anemia are caused by slow bleeding or a lack of iron in the diet. Genetic cases are rare in comparison, but it’s not clear how common they are, Andrews said. If defects in the human “Nramp2” gene cause those cases, a genetic test could be used for diagnosis, she said.

The new research may have greater implications for a common and potentially fatal disease in which the body stores too much iron, she said. About one in 400 people of Northern European descent have hereditary hemochromatosis. It’s treated by draining off blood periodically.

The newfound gene is not implicated in this disorder. But scientists might someday develop a pill to block the protein the gene produces, which would keep patients from accumulating more iron, Andrews said. Patients could still use the iron they had stored already, she said.

She and colleagues present their work in the August issue of the journal Nature Genetics, while other scientists report their independent discovery of the gene in the July 31 issue of Nature.