Hereditary hemochromatosis is an inherited, autosomal recessive disorder
of iron metabolism that causes the body to absorb and store an
excess amount of iron resulting in "iron overload" disease
If left untreated, hereditary hemochromatosis can result in the progressive accumulation of iron
in the liver, pancreas, heart, joints, and pituitary gland leading to potentially serious complications
including cirrhosis of the liver, diabetes, and heart problems.
The good news is that early diagnosis and treatment can effectively reduce the body's iron overload,
prevent organ damage, and enable patients to lead normal and productive lives.
Surprisingly, many people have never heard about hereditary hemochromatosis even though
it is one of the most common genetic disorders in the United States.
It has been estimated that approximately 0.5% of the U.S.
Caucasian population carry two copies of the defective gene (HFE gene) that is responsible
for the disorder Hereditary hemochromatosis is also the most commonly
inherited liver disease in Europe
Signs and symptoms of hereditary hemochromatosis
include generalized weakness and fatigue, joint pain, abdominal pain
and a bronze discoloration of the skin.
Some patients may also have an enlarged liver or spleen.
Diagnosis of hereditary hemochromatosis is based upon a thorough medical history,
physical examination, and laboratory tests to measure for iron overload.
If hereditary hemochromatosis is suspected, your doctor will order a genetic blood test to
look for the HFE mutation that is responsible for the disorder
Early diagnosis and treatment of hereditary hemochromatosis is critical in order to prevent damage
to vital organs and prevent serious complications such as cirrhosis of the liver and diabetes.
The objectives of treatment are to remove excess iron from the body and prevent organ damage.
Treatment consists of therapeutic phelebotomy which involves removing one unit of blood
once a week until the iron levels have returned back to the normal range.
Iron chelation therapy may be considered an option for patients who
are not appropriate candidates for therapeutic phlebotomy