Iron Disorder Hemochromatosis

Hereditary hemochromatosis disease is the most commonly diagnosed iron overload disease. Symptoms of hemochromatosis disease occur when excessive iron is absorbed by the intestines and accumulates in the internal organs.

Without treatment, hereditary hemochromatosis disease results in severe organ damage and eventual organ failure. Hereditary hemochromatosis disease affects one out of every thousand Americans.

Causes of Hemochromatosis Disease

An inherited genetic mutation on the HFE gene causes hereditary hemochromatosis disease. Two known mutations occur on the HFE gene: C282Y and H63D.

Of these two mutations, C282Y is most commonly associated with symptoms of hemochromatosis. If a person inherits the C282Y mutation from both parents, a high risk of iron overload and hereditary hemochromatosis disease exists.

The H63D mutation may cause a slight increase in intestinal iron absorption, but by itself is not associated with an increased risk of hemochromatosis disease. Inheriting H63D from one parent and the C282Y gene from the other can result in hemochromatosis disease, but this is a rare occurrence.

Hereditary hemochromatosis disease is an unusual genetic iron overload disease: the presence of two C282Y genes does not automatically mean that symptoms of hemochromatosis will develop. Only some people with HFE gene mutations develop hemochromatosis disease, implying other factors may be responsible for the onset of the disease.

Risk Factors for Hemochromatosis Disease

Inheriting the C282Y gene from both parents is the single most important risk factor for hereditary hemochromatosis disease. Approximately one of every eight Americans is a carrier for C282Y (possessing a single copy of the mutated gene).

People of northern European ancestry have a higher than normal risk of developing symptoms of hemochromatosis. The iron overload disease is less common among African Americans, Asian Americans, Hispanic Americans and Native Americans. However, hereditary hemochromatosis disease can affect anyone, regardless of ethnicity.

Hereditary hemochromatosis disease occurs in both genders, but men are five times more likely to develop the iron overload disease than women. Men also tend to develop symptoms of hemochromatosis at an earlier age than women.

Symptoms of Hemochromatosis Disease

Genetic HemochromatosisHereditary hemochromatosis gene mutations are present from birth, but symptoms of hemochromatosis disease rarely develop before adulthood.

Men tend to develop symptoms of hemochromatosis between the ages of thirty and fifty, while symptoms in women’s usually develop after age fifty. The iron-depleting effects of menstruation and pregnancy help prevent excessive iron overload in women, explaining why symptoms of hemochromatosis generally fail to appear before menopause.

Common symptoms of the disease include:

  • abdominal pain
  • heart problems
  • joint pain
  • lack of energy
  • loss of libido.

Secondary Complications and Symptoms

If it isn’t detected and treated early, iron overload can cause many secondary complications. These complications produce their own symptoms, which can mask symptoms of hemochromatosis.

Untreated hereditary hemochromatosis disease can result in:

  • adrenal gland dysfunction
  • arthritis
  • diabetes
  • early menopause
  • an enlarged liver
  • grey or bronze skin color
  • irregular heart rhythms
  • liver cancer
  • liver cirrhosis
  • liver failure
  • thyroid deficiency.

Follow the links for more information on hemochromatosis diagnosis and hemochromatosis treatment.


American Hemochromatosis Society. (nd). FAQs about hemochromatosis.

Heeney, M. M.,