October 10, 1996
Overload Causes Fatal Symptoms
ANNE WILSON THE SALT LAKE TRIBUNE
Lake County contractor Dan Monson was born with
a genetic mutation that could have been easily
treated with regular blood donations.
Monson did not know until too late that he had
hereditary hemochromatosis, a frequently undiagnosed
genetic disorder that is much more common than
AIDS, muscular dystrophy or multiple sclerosis.
mutation that causes hemochromatosis prompts the
body to absorb too much iron, which slowly damages
the liver, heart, pancreas and sex glands. The
potentially lethal condition can be easily diagnosed
with a blood test and is simply treated by removing
the stored iron with regular bloodletting, known
as therapeutic phlebotomy.
some people with the disorder are not diagnosed
before they suffer major organ damage, because
their symptoms are mild or suggestive of other
diseases. Monson, who left behind a wife and 5-year-old
son when he died in June at age 38, was one of
wife, Carolyn Monson, said doctors were too quick
to blame alcohol for the liver damage actually
caused by excess iron.
feel like the doctors just labeled him as someone
who drank too much alcohol and therefore deserved
what he was getting,'' Monson said. ``That just
seemed to be the attitude.''
began feeling tired and having headaches in February.
Then his hair started falling out. Tests showed
he had cirrhosis, a liver disease linked to alcohol
abuse. But the cause of the liver damage was not
diagnosed until three days before Monson died,
his wife said.
Rogers' hemochromatosis was missed, too, although
the 35-year-old Salt Lake City scientist had been
undergoing treatment for infertility, according
to her mother, Juanita Taft Rogers, of Provo.
just screwed it all the way around,'' said Rogers
of the medical care given her daughter, who died
of heart failure on Sept. 15.
they had just discovered it, she could go give
blood once a month. That would have taken care
of it,'' Rogers said.
was once believed to be rare. But research in Utah
and elsewhere indicates 1 in 200 people have both
copies of a mutated gene that puts them at risk
of absorbing too much iron.
more people -- 1 in 10 -- carry a single mutated
gene, which usually does not cause disease. But
if two carriers have children together, each of
their offspring has a 1 in 4 chance of inheriting
both mutated genes.
is important to the metabolism of all cells, especially
oxygen-carrying blood cells. Normally, the average
male has about 4 grams of iron, the average female
amount remains constant, despite a daily western
diet that contains 12 to 15 milligrams of iron,
said James P. Kushner, professor of hematology
at the University of Utah. The body absorbs only
about 1 milligram of iron per day through the small
intestine, to replace what is lost in sloughed
the gene that causes hemochromatosis doubles that
amount. Once absorbed, the iron collects throughout
the body, where it slowly accumulates and damages
tissue. In men, that usually takes at least 40
years; most women are protected because they lose
iron through menstruation and childbirth.
important point here is the only iron lost under
normal circumstances is these sloughed cells .
. . you don't pee it out, you don't sweat it out,
you don't spit it out,'' Kushner said.
speculated the hemachromatosis mutation was advantageous
during man's earlier history, when diets were more
likely to be iron-deficient.
gene that causes hemochromatosis was identified
in July by Mercator Genetics, of Menlo Park, Calif.
That means people can be screened for the mutation,
but such screening is expensive, Kushner said.
many as 1.5 million Americans have hereditary hemachromatosis
but most do not know it, said Sharon McDonnell,
a physician in the division of nutrition and physical
activity at the Centers for Disease Control and
all been taught that it's a rare disease of white
men and we're not looking for it,'' she said. ``We
don't know how many people with the disorder go
on to the really bad news.''
will be diagnosed after they develop symptoms:
heart irregularities, chronic fatigue, cirrhosis,
arthritis, impotence, infertility, early menopause,
diabetes, darkened skin or abdominal pain. Others
will die of diseases caused by iron overload although
the underlying diagnosis is never made. University
of Utah researchers who reviewed pathology reports
of 15,000 liver biopsies found excess iron in 300
of the patients.
know now that many had hemochromatosis but it wasn't
recognized,'' said the U.'s Kushner, who was involved
in the study. The frequency of hereditary hemochromatosis,
plus the fact that it can be easily detected and
treated, has prompted the federal government to
consider recommending widespread screening using
an inexpensive blood test.
CDC believes screening and early treatment of hemochromatosis
``represents a major chronic disease prevention
opportunity.'' McDonnell said the agency will recommend
that anyone over the age of 18 be screened during
routine physicals for iron overload diseases, such
blood test that is not routinely done can accurately
identify people who are storing too much iron.
After being absorbed, iron binds with a protein
called transferrin in the plasma, the liquid portion
of blood. Measuring how much iron is joined to
the transferrin -- transferrin saturation -- is
used to diagnose iron overload.
McDonnell said the agency wants to make sure the
test is performed and interpreted the same way
in all laboratories. And there are other concerns
People who have the double mutation for hemochromatosis,
but do not have any disease from the excess iron,
may have trouble getting health insurance.
The American Association of Blood Banks will not
allow its members to accept blood from therapeutic
phlebotomies because the donors have a disease
and are not motivated solely by altruism. But if
they are not allowed to donate the blood, people
with hemochromatosis will have to pay for bloodletting.
said many people with hemochromatosis, whether
they are diagnosed or not, are already regular
blood donors. Widespread screening would identify
them and possibly have a significant impact on
the nation's supply of donated blood.
of thousands of blood donors might be excluded,''
McDonnell said. But more research is needed to
determine whether people with hemochromatosis can
safely continue to donate. ``We need to do this
in such a way that we don't make anybody's risk
CDC, in cooperation with the U., other research
institutions and patient groups, is conducting
a national survey of people with hemochromatosis.
The agency wants to know how patients were diagnosed
and what effect the disease has had on their lives.
To participate, contact the CDC at this toll-free
said the survey will help doctors better define
and diagnose the disease. ``By our lack of education
as physicians and public health people, we are
hurting people,'' she said. ``Having them speak
to us about what they went through will be compelling.''
1996, The Salt Lake Tribune All material found
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