FYI - Hemachromatosis More Common Than Previously Thought

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F

FYI. Years ago, visiting with a hemachromatosis researcher and physician -

he suggested anybody with cancer, diabetes, liver disease and arthritis

should be screened for hemachromatosis!

Jan

Research in today’s New England Journal of Medicine (_http://www.nejm.htt_

(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., 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.

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. , M.D.,

Ph.D., of the Royal Children’s Hospital in , 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.â€

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.â€

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 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.â€

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.

Jan Patenaude, RD, CLT

Consultant, Writer, Speaker

Director of Medical Nutrition

Signet Diagnostic Corporation

(Mountain Time)

(toll free)

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