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Thursday December 7 1:53 PM ET
Screening Newborns for Genetic Disease Helps Parents

By Anne Harding

NEW YORK (Reuters Health) - Screening newborns for hemochromatosis is effective, practical, and can save their parents' lives, according to French researchers who have developed a program for identifying infants with this common and potentially fatal genetic disease.

People with hemochromatosis cannot clear iron from their bodies. Periodic bloodletting prevents the mineral from collecting in the body and damaging organs and tissues, and patients with hemochromatosis who receive this treatment can live healthy, normal lives. But the illness often is not detected until symptoms appear in mid-life and the heart, liver and other organs have been damaged irreversibly.

The nonprofit American Hemochromatosis Society (AHS) urges that all newborns be screened for the condition, which strikes 1 in 200 to 1 in 500 people in the United States, according to the Centers for Disease Control and Prevention (news - web sites).

One in 10 people carry a single copy of the mutated gene that causes hemochromatosis. These carriers do not have the disease themselves but can pass the mutated gene to their children.

``Identifying the...gene mutation in the newborn's family also alerts the parents and all of their family members to be tested for this fatal yet preventable and treatable condition,'' AHS founder Sandra Thomas stated in a press release.

Researchers from the Centre Hospitalier in Amiens, France, described their screening program Tuesday at the American Society of Hematology's annual meeting in San Francisco.

More than 80% of parents, who were contacted during pregnancy or shortly after their child was born, agreed to have the infant tested, researchers led by Estelle Cadet reported. Parents of children found to have hemochromatosis were informed by mail and offered free genetic counseling, as well as screening for themselves and other children in the family.

Parents of a child with hemochromatosis have a 17 times greater than average risk of having the disease themselves, the team reported, while if their child carries a single gene for the disease a parent's risk is 8.5 times greater than normal.

The researchers noted that ``we have to make sure that the information is retained for the future: a local register has still to be established which would give the possibility of following up young people carrying (two copies of the mutated gene).''

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