"Some estimates had put the percentage at less than 1 percent."
"Among men 28 percent were found to have the disease"

Newswise -- Research in today's New England Journal of Medicine
(http://
www.nejm.org) shows hereditary hemochromatosis is much more common
than previously thought and will spur more study to determine who is
most likely to develop complications from the debilitating and
potentially fatal disease, write two faculty members at the Saint
Louis University School of Medicine. Their work appears in an
editorial in the NEJM that accompanies the research.

"This study gives us important new understanding into hemochromatosis
- particularly how complications from the disease are common among
men
with the genetic predisposition for it," said Bruce R. Bacon, M.D.,
James F. King M.D. Endowed Chair in Gastroenterology, professor of
internal medicine and director of the division of gastroenterology
and
hepatology at SLU School of Medicine, and one of the authors of the
editorial in the NEJM.

"We believe this research will further the search for the factors
that
determine which people with the genetic markers for hemochromatosis
go
on to develop this very serious disease," added Bacon, who in 1996
was
part of the team that identified the genetic mutation that causes the
disorder.

Robert S. Britton, Ph.D., associate professor of internal medicine at
SLU School of Medicine, co-authored the editorial with Bacon.

Hemochromatosis causes the body to absorb up to three times the
normal
amount of iron. Over the years, the excess iron builds up in the
vital
organs, joints and tissues, where it can cause a number of
debilitating and potentially fatal conditions, including liver and
heart disease, diabetes and arthritis. The disease can be difficult
to
diagnose because its early symptoms can often be attributed to other
causes.

The research published today followed more than 31,000 people in
Melbourne, Australia, over 12 years. The study was done by Katrina J.
Allen, M.D., Ph.D., of the Royal Children's Hospital in Victoria,
Australia, and the University of Melbourne in Australia, along with a
more than a dozen other researchers in Australia and the U.S.

The genetic marker for hemochromatosis is a mutation called C282Y.
Someone needs to inherit two copies of this defective gene, one from
each parent, in order to be susceptible to the disease; when they do,
they're called "C282Y homozygotes."

Previous studies have shown that about 1 in 250 people overall have
this genetic marker for hemochromatosis, as do about 1 in 200 people
with northern European ancestry. But those studies were not clear as
to what percentage of those with the marker would go on to develop
the
disease. Some estimates had put the percentage at less than 1
percent.

However, the research published today found that the proportion was
far higher, particularly among men. Among men with the genetic marker
for hemochromatosis, 28 percent were found to have the disease. Among
females, the proportion was 1 percent.

The study, Bacon and Britton write, emphasizes "that signs and
symptoms associated with hereditary hemochromatosis have a strong
male
predominance and that C282Y homozygotes need careful clinical
assessment to detect liver fibrosis and the arthropathy [joint
disease] characteristic of this disease."

Bacon and Britton note that in clinical practice, testing for the
genetic marker for hemochromatosis is recommended for any immediate
family member of someone newly diagnosed with the disease.

They conclude: "The study by Allen et al. will spur the search for
genetic and environmental factors that determine which C282Y
homozygotes accumulate substantial amounts of iron and are at risk
for
clinically relevant tissue damage."

Established in 1836, Saint Louis University School of Medicine has
the
distinction of awarding the first medical degree west of the
Mississippi River. The school educates physicians and biomedical
scientists, conducts medical research, and provides health care on a
local, national and international level. Research at the school seeks
new cures and treatments in five key areas: cancer, liver disease,
heart/lung disease, aging and brain disease, and infectious disease.
---------------------------------------------------------------------------­-----
Source: Saint Louis University Medical Center     Released: Tue 15-
Jan-2008, 14:00 ET
Embargo expired: Wed 16-Jan-2008, 17:00 ET Printer-friendly Version

(c) 2008 Newswise.  All Rights Reserved.

Who loves ya.
Tom

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