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Iron is an important nutrient for a healthy body. In
people who have hemochromatosis, however, excess iron
is absorbed by the body. With no natural way to eliminate
the extra iron, the body stores it in certain tissues,
such as those in the liver, heart and pancreas. Too
much iron can critically damage these organs, causing
cirrhosis, congestive heart failure, and possibly diabetes.
Hemochromatosis can also result in arthritis, thyroid
deficiency, impotence, and early menopause. Damage to
pigmentation can make the person’s skin appear
bronze or gray.
The symptoms of hemochromatosis vary, but joint pain
is commonly experienced. Fatigue, pain in the abdomen,
cardiac problems, and a loss of sex drive are other
symptoms that some, but not all, people with hemochromatosis
report. In some cases, the person does not have any
unusual symptoms.
Hemochromatosis is a heritable disorder with five distinct
types. Three of them—Hemochromatosis Types 1,
2, and 3—are autosomal recessive conditions. Hemochromatosis
Type 4 has an autosomal dominant pattern of inheritance.
The fifth type, Hemochromatosis, neonatal, is extremely
rare, and its inheritance pattern is not yet known.
The most common form of the disorder is Type 1, affecting
about 1 million people in the United States.
Clinical tests for hemochromatosis include a transferrin
saturation test and a serum ferritin test, which measure
the liver’s iron levels. Typically, geneticists
test a person’s blood for two gene mutations,
C282Y and H63D. The mutations indicate an interference
with the normal metabolism of iron. The DNA test for
hemochromatosis has a detection rate of about 87 percent..
With hemochromatosis, primarily an autosomal recessive
disorder, it is important to test for carriers of the
mutant genes. These people do not have hemochromatosis
themselves, but carry one of the defective genes. So,
if a person is found to have hemochromatosis, it is
recommended that his or her siblings, parents, and children
consider having the genetic test. People with otherwise
unexplainable high levels of iron, severe fatigue, joint
disease, heart disease, or diabetes are possible candidates
for testing, as well.
Hemochromatosis is treatable, but not curable. The
goal is to eliminate excess iron from the blood, and
the most common way to do that is by drawing the patient’s
blood until the blood ferritin levels are acceptable.
Not many people like getting their blood taken, but
by doing so, they may be able to prevent damage to vital
organs or reduce the severity of iron overload’s
effects. Cirrhosis is one condition that does not improve
after the phlebotomy regimen, and if the patient has
developed cirrhosis, his or her chances of having liver
cancer increases. To avoid possible damage to the liver,
any person with hemochromatosis should avoid drinking
alcoholic beverages and not take iron supplements.
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