Wednesday, April 19, 2006

America's melting pot and the spread of harmful genes

Bob Gross:

Hereditary Type I hemochromatosis - there are other iron overload conditions caused by other factors - affects people with northern European ancestry somewhere in their backgrounds. It's most prevalent among Celtic peoples, especially Scots-Irish.

Some researchers believe that, 60 to 70 generations in the past, a single individual in Europe had a chance mutation in the HFE gene and passed it on. As it does not normally affect people when they are of child-bearing age, it did not die out.

Bicknell is of German, Irish, Jewish and Dutch descent. His father was also diagnosed with hemochromatosis. He had other relatives who were diagnosed with bronze diabetes - an older term for the condition describing the dark color victims sometimes turned in the fi nal stages.

"My father's dad, when he passed away, almost looked like he was of Indian descent," said Bicknell.

John Connolly, 70, of Madison Heights is of German-Irish descent. He is one of seven living siblings, and five of them have Type I hemochromatosis.

"There are symptoms," he said. "I told my insurance for many years I had the yuppie disease - fatigue.

"I would come home for dinner and sit down in my chair and would fall asleep.

"It's a bad disease because it can affect your liver," he said.

Grace Kirkwood, 81, of Clawson is a carrier for the condition. She doesn't have hemochromatosis but does have one copy of the defective HFE gene.

Her twin sons, Ronald and Donald Kirkwood, have the condition, as does her husband, Charles.

"A couple of my husband's sisters found out they had it, too," she said. "They both died from it. It caused liver damage."

Typically, once blood tests confirm elevated levels of serum ferritin and transferrin - a protein that transports iron in the blood - patients receive DNA testing to confirm the presence of the mutated genes.

While ethnic background is considered, it's becoming less and less a factor in the United States, said Murphy.

"I look at the family history and the symptoms," she said.

The diversity of American society is responsible for spreading the mutation throughout the population, said Thomas.

"You've got your melting pot," she said. "You've got African-Americans with this same mutation, and you have African-Americans with their own iron overload that they haven't found the mutations for."

One of the major downsides of interethnic and interracial marriages is that it leads to the spread of potentially harmful genes.

Blood ties: Doc warns about 'Celtic' disorder

Hemochromatosis in Ireland and HFE

Hereditary hemochromatosis: A common, often unrecognized, genetic disease

Celtic Origin of the C282Y Mutation of Hemochromatosis

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