<<Disclaimer: Verify this information before applying it to your situation.>>
*** Introduction ***
Iron is a paradoxical element--a minute amount is essential to life but in
excess it is toxic. Even in normal individuals, the mechanism of absorption
is poorly understood. And once absorbed, iron is one of two metals which the
body cannot remove except by blood loss (the other is copper).
A normal adult has about 4 grams of total body iron, about the weight of a
teaspoon of water. Three-fourths of this iron is in the hemoglobin of the
blood. In hemochromatosis (HC) victims, there is much more body iron,
sometimes as much as 40 grams.
*** Hemochromatosis ***
HC is a genetic disorder of the intestine in which there is an increased
absorption of iron from food. It is caused by an abnormal H gene.
A gene is a code for a family trait or characteristic. There are hundreds of
thousands of genes in our genetic material (DNA), located on 23 pairs of
chromosomes, that we inherit from our parents. Our chromosomes are a
combination of our parents' genetic material.
People who inherit one defective H gene and one normal one are called
carriers. Although their iron absorption rate is somewhat higher than normal,
their iron levels do not usually reach toxic levels. Someone who has two
defective H genes has the full-blown condition called hemochromatosis.
Someone with HC absorbs far too much iron from the food they eat starting from
infancy. Since the body has no way to remove excess iron except through blood
loss, the iron slowly accumulates in the liver, heart, pancreas, joints, skin,
and other organs.
*** Prevalence ***
HC is the most common fatal genetic disorder in people of European decent. In
the U.S., it occurs in roughly 1 in every 190 people, and 10% of the popula-
tion are carriers (have 1/2 the gene). We only recently discovered that HC is
so common, so most people, including many doctors, still believe it is rare.
*** Symptoms ***
Unfortunately, there are no symptoms that occur only with HC. This makes HC
look like many other diseases, so the correct diagnosis and treatment are
often delayed. Additionally, not everyone has the same symptoms, which also
makes diagnosis difficult. Some of the most common symptoms are:
* chronic fatigue * loss of sex drive
* weakness * hair loss
* weight loss * infertility
* abdominal pain or swelling * diabetes
* joint pain * chest pain
* dry, itchy skin * heart disease
* bronze or gray colored skin * liver disease
* frequent infections
* cancer, especially liver cancer
Since it may take decades for the iron to reach toxic levels, symptoms often
do not appear until middle age. It may appear even later in some women, who
lose enough blood through menstruation and childbirth to delay toxic
accumulations of iron. However, toxic iron excess damage has been noted in
children as young as 14, so age is not a determining factor in diagnosis.
*** Diagnosis ***
1) The initial test for HC is the total-iron-binding-capacity saturation
(TIBC SAT) test. This test measures how saturated with iron your body is, not
just the total weight of iron in your body. (A simple serum iron test is not
enough to detect HC.) Any TIBC SAT reading above 40% requires further
investigation. Your medical provider may also check your ferritin level, a
related but inaccurate measure of iron excess.
2) If the first tests showed some excess, your medical provider may order a
second check one to six months later. You should ask about any iron
supplements you are taking by prescription. You should also stop taking any
vitamin supplimants with iron that you are taking without medical advise.
3) In some cases, a liver biopsy is needed to make the final diagnosis of HC.
The biopsy will show the exact amount of iron excess, and will show if any
liver damage has occurred.
Note: The specific HC gene has not yet been found, so there is no genetic
test. However, there is a way to compare a genetic section called the "HLA"
segment to any brother or sister who you know has HC. If the HLA segments are
similar, there is a good chance you have HC also. This test does not have
much value because of the limitations, the high margin of error (about 10%),
and relative high cost ($200 U.S.), so the HLA test is not done very often.
*** Screening Relatives ***
Since HC is genetic, it runs in families. But as we said, HC is often not
diagnosed until much damage has occurred. So, if you find you have HC, you
should talk to all your blood relatives and inform them of HC and the need to
be tested. Many people have been spared the serious damage of HC because a
family member warned them of the danger of toxic iron excess.
*** Treatment ***
There is no cure yet for HC, but there is a simple and usually quite effective
treatment. The procedure, called "phlebotomy," is very similar donating
blood. Since most of the iron in your body is in the blood, phlebotomy is the
most effective way to reduce your iron levels.
Your treatment will probably occur in two stages: the first or "initial" stage
where very frequent phlebotomies (as much as twice a week), are needed to
remove the toxic excess iron as quickly as possible. The initial stage may
last from one to 24 months.
The second stage, or "maintenance," starts when your iron levels are normal,
and continues for life. Typically, phlebotomies are needed only two to five
times a year to prevent the toxic iron excess from reappearing. (Many people
already donate blood this often.) Your medical provider will probably
recheck your TIBC saturation every year to make sure your iron stays at the
right level.
There are drugs called "chelators" which remove iron chemically, but they are
not nearly as effective as phlebotomy, and can have unpleasant side effects.
They are only used for patients who cannot afford to lose much blood, for
example, some heart disease patients.
*** Diet ***
There are some dietary changes you can make which will help control your iron
absorption somewhat. But please note: DIET ALONE IS =NOT= AN EFFECTIVE
TREATMENT FOR HEMOCHROMATOSIS, IN EITHER INITIAL OR MAINTANANCE STAGES OF
TREATMENT. Since iron is in so many foods, you could not eliminate enough
"iron food" and still have a healthy diet, and diet cannot remove the excess
iron you have already received.
Generally, a low-fat, high-fruit and -vegetable diet is also low in iron.
Vitamin C helps you absorb iron, so >avoid eating foods high in vitamin C with
meals. The caffeine found in tea, coffee, and many colas helps limit iron
absorption. Avoid altogether organ meats, especially liver; highly iron-
fortified foods such as many breakfast cereals; and vitamin supplements of any
kind which contain iron. You should not use cast iron and plain steel pots
and pans (including woks!) Stainless steel and other metals do not add iron
to your food.
*** Prognosis ***
There is good evidence that with the removal of excess bodily iron, patients
feel better, stronger, skin color improves, liver size decreases, diabetes
improves, and heat disease improves. In some cases, even liver cirrhosis
improves. In fact, if found and treated before major organ damage occurs, HC
will not affect your life expectancy. Without treatment, however, iron will
continue to build at toxic levels, causing organ failure and premature death.
*** And Finally ***
We hope this information is useful to you and members of your family who may
be affected by HC. We are happy to provide this service to those who want
our help. We'd also like you to know that your donations make it possible
for us to provide this free information about iron, and supports the research
needed to better understand how iron affects your health. You also help us
reach and support those with iron excess in this community. A membership in
the Foundation provides even more benefits for your support. With your
generous help, someday we can even find a cure for hemochromatosis.
For more information about hemochromatosis, medical referrals, or Foundation
membership or discussion groups in your area, contact your local chapter of
the Hemochromatosis Foundation, or contact us at:
The Hemochromatosis Foundation
PO Box 8569
Albany, New York USA 12208
email: [log in to unmask]
Copyright 1995, Hemochromatosis Foundation, Inc. All Rights Reserved. All
contributions to the Foundation are tax-deductible.
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