Hemochromatosis

(Hereditary Hemochromatosis [HH]; Primary Hemachromatosis; Familial Hemochromatosis)

Definition

Hemochromatosis is a condition in which the body builds up too much iron. Two types of hemochromatosis are:

Primary or Hereditary Hemochromatosis (HH)

This type is caused by inherited genes and includes juvenile hemochromatosis. These genes cause the stomach and intestines to absorb too much iron. It is the most common genetic disorder in the United States.

Secondary Hemochromatosis

This type results from treatments or diseases that cause iron to build up in the body. This may include:This type results from treatments or diseases that cause iron to build up in the body. This may include: If found, early HH is easily treated. Untreated HH can lead to severe organ damage. Excess iron builds up in the cells of the liver, heart, pancreas, joints, and pituitary gland. This leads to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease, and joint disease.
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Causes

HH is caused by a genetic defect. It is passed down through autosomal recessive inheritance. This means a child who inherits 2 genes, 1 from each parent, is very likely to develop HH. However, not all people who have 2 copies of the gene develop signs and symptoms of HH.

Risk Factors

Hemochromatosis usually present in men between 30-50 years old and in women over 50 years old (postmenopausal). Factors that increase your chance for developing HH include:
  • Family members with hemochromatosis
  • Western or Northern European ancestry
  • Alcoholism, which can lead to liver disease and secondary hemochromatosis

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