Encyclopedia of Health and Medicine

H
Hashimoto’s disease
See THYROIDITIS.
hemochromatosis A genetic disorder in which
the gastrointestinal tract absorbs too much iron
into the bloodstream. The BLOOD deposits the
excess iron in various tissues and organs, where it
accumulates and eventually causes damage. Common
sites for deposits include the HEART, causing
HEART FAILURE, PANCREAS, causing DIABETES, and
LIVER, causing CIRRHOSIS and LIVER FAILURE. Though
hemochromatosis is congenital (present from
birth), most people do not experience consequences
or symptoms until midlife when enough
iron has accumulated in the organs to affect their
functions.
Health experts believe hemochromatosis is far
more common than the number of people diagnosed
with the condition suggests. Women may
not show symptoms until 10 or more years after
MENOPAUSE because the bleeding associated with
MENSTRUATION reduces blood iron concentrations,
serving as a natural therapy for the hemochromatosis.
Researchers have identified several GENE
mutations that can cause hemochromatosis. The
most common mutations are those involving the
HFE gene that regulates gastrointestinal iron
absorption. Researchers have designated them
C282Y and H63D, and they account for about 85
percent of diagnosed hemochromatosis in the
United States.
Symptoms and Diagnostic Path
Doctors often detect hemochromatosis during
evaluation for other health concerns, when blood
tests show higher than normal HEMOGLOBIN or iron
levels. The symptoms of hemochromatosis result
from damage to organs and structures where iron
deposits accumulate and often take the form of
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fairly advanced disease states by the time of detection.
General symptoms may include
• JOINT PAIN (the most common symptom)
• fatigue and lethargy
• abdominal discomfort or PAIN
The excessive iron in the body may also interfere
with FERTILITY (causing early menopause in
women) and LIBIDO (sex drive). The diagnostic
path includes general blood tests to measure
hemoglobin, hematocrit, red blood cells, and specialized
blood tests that measure iron. The most
commonly used are
• transferrin saturation, which measures how
much iron the hemoglobin carries (protein saturation)
• total iron binding capacity (TIBC), which measures
the capacity of the hemoglobin to transport
iron
• serum ferritin, which measures the iron the liver
contains
Elevated results in any of these tests suggests
hemochromatosis. Further blood analysis to detect
the HFE gene mutation and liver biopsy are the
final steps in the diagnostic path and provide a
definitive diagnosis.
Treatment Options and Outlook
Treatment for hemochromatosis is phlebotomy,
the withdrawal of blood a pint at a time. Initial
treatment may take place several times a week
until blood levels of iron return to normal. Most
people then require phlebotomy sessions only
once every two to four months, though lifelong
treatment is necessary. Treatment also targets any