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. Com-
mon sites for deposits include the HEART, causing
HEART FAILURE, PANCREAS, causing DIABETES, and
LIVER, causingCIRRHOSISand LIVER FAILURE. Though
hemochromatosis is congenital (present from
birth), most people do not experience conse-
quences 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 diag-
nosed with the condition suggests. Women may
not show symptoms until 10 or more years after
MENOPAUSEbecause the bleeding associated with
MENSTRUATIONreduces blood iron concentrations,
serving as a natural therapy for the hemochro-
matosis. 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 HEMOGLOBINor iron
levels. The symptoms of hemochromatosis result
from damage to organs and structures where iron
deposits accumulate and often take the form of

fairly advanced disease states by the time of detec-

tion. 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 inter-

fere 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 spe-

cialized blood tests that measure iron. The most

commonly used are

• transferrin saturation, which measures how
  much iron the hemoglobin carries (protein sat-
  uration)


• total iron binding capacity (TIBC), which meas-
  ures the capacity of the hemoglobin to trans-
  port 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

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