Hemochromatosis
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Hemochromatosis
What is hemochromatosis?
Hemochromatosis, also called iron overload disease, is the most common genetic disorder in
the US. It is a metabolic disorder that causes increased absorption of iron, which is deposited
in the body tissues and organs. The iron accumulates in the body where it may become toxic
and cause damage.
What causes hemochromatosis?
Hemochromatosis is a genetic disease, often most prevalent among people of northern
European descent. This means that hemochromatosis is inherited. A person will be born with
hemochromatosis only if two hemochromatosis genes are inherited - one from the mother
and one from the father. A person who has only one hemochromatosis gene is healthy and
said to be a "carrier" of the gene. A carrier has an increased chance to have a child with
hemochromatosis. This type of inheritance is called autosomal recessive. "Autosomal" means
that the gene is on one of the first 22 pairs of chromosomes, and not on the X or Y
chromosome. Therefore, males and females are equally affected by the disease. "Recessive"
means that two copies of the gene, one inherited from each parent, are necessary to have
the condition. Once parents have had a child with hemochromatosis, there is a one in four, or
25 percent, chance with each future pregnancy for another child to be born with
hemochromatosis. This means that there is a three out of four, or 75 percent, chance for
another child to not have hemochromatosis.
The carrier frequency is estimated at one in 10 to one in 15, which means that one in 200 to
one in 400 persons has hemochromatosis. Although hemochromatosis is an autosomal
recessive disorder (which usually means men and women are equally affected), this condition
is 10 times more common in men than women. The age of onset is also earlier in males than
females. The reasons for these differences are thought to be due to iron loss through menses
in females. In other words, females do not build up iron as quickly over time.
What are the symptoms of hemochromatosis?
The following are the most common symptoms of hemochromatosis. However, each
individual may experience symptoms differently. Symptoms may include:
lethargy and weakness
irritability
depression
joint pain
bronze or yellowish skin color
loss of body hair
impotence in men
amenorrhea in women
Untreated or severe hemochromatosis may lead to the following:
abnormal heart rhythm
congestive heart failure
enlarged liver
enlarged spleen
diabetes
The symptoms of hemochromatosis may resemble other blood disorders or medical
problems. Always consult your physician for a diagnosis.
http://www.umm.edu/blood/hemachro.htm
10/25/2006
Hemochromatosis
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How is hemochromatosis diagnosed?
Hemochromatosis is usually discovered during a medical examination through a routine blood
test. In addition to a complete medical history and physical examination, diagnostic
procedures for hemochromatosis may include the following:
transferrin saturation test (TS) - a type of iron study (blood test) that measures the
percentage of transferrin and other mobile, iron-binding proteins saturated with iron.
liver biopsy - a procedure performed to remove tissue or cells from the body for
examination under a microscope.
Treatment for hemochromatosis:
Specific treatment for hemochromatosis will be determined by your physician based on:
your age, overall health, and medical history
extent of the disease
your tolerance for specific medications, procedures, or therapies
expectations for the course of the disease
your opinion or preference
Treatment may include:
periodic phlebotomy - a procedure that involves removing blood from the body.
diet modification
treatment of the resulting diseases or conditions
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10/25/2006