Haemochromatosis

What is haemochromatosis?

Haemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the heart, liver, pancreas, and joints. Because humans cannot increase excretion of iron, the extra iron accumulates over time and eventually can damage the tissue or organ.

Genetic changes are related to the following types of haemochromatosis.

The signs and symptoms of haemochromatosis result from damage to tissues and organs that experience an overload of iron. For example, iron deposits in the joints can cause joint pain. In the most common form of haemochromatosis (type 1), early symptoms are nonspecific and may include fatigue, joint pain, abdominal pain, impotence, and loss of sex drive. Later signs and symptoms include arthritis, liver disease, diabetes, heart abnormalities, and skin discolouration. The age of onset for symptoms varies with the type of haemochromatosis, from newborn (neonatal haemochromatosis) to midlife (type 1 haemochromatosis).

How common is haemochromatosis?

Type 1 haemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects Caucasians (whites) of Northern European descent. The other types of haemochromatosis are considered rare and have been studied in only a small number of families.

What genes are related to haemochromatosis?

Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause haemochromatosis.

The proteins produced by haemochromatosis genes play an important role in regulating the absorption, transport, and storage of iron. Mutations in these genes disrupt their normal activities. As a result, iron accumulates in the body, which can damage tissues and organs. Mutations in additional genes, which have not yet been identified or well characterised, are suspected to cause haemochromatosis.

How do people inherit haemochromatosis?

Haemochromatosis types 1, 2, and 3 are inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of the altered gene. Type 4 haemochromatosis is distinguished by its autosomal dominant inheritance pattern. This means only one copy of the altered gene is necessary to cause the disorder. In most cases, an affected person has one affected parent, and the disorder is seen in every generation of a family. The inheritance pattern of neonatal haemochromatosis is unclear.

What other names do people use for haemochromatosis?

  • Bronzed cirrhosis
  • Bronze Diabetes
  • Familial Haemochromatosis
  • genetic haemochromatosis
  • Haemochromatosis
  • Haemochromatoses
  • Haemochromatosis, hereditary; HH
  • Hereditary Haemochromatosis (HHC)
  • HFE-associated haemochromatosis
  • HLAH
  • Iron storage disorder
  • Pigmentary cirrhosis
  • Primary Haemochromatosis
  • Troisier-Hanot-Chauffard syndrome
  • Von Recklenhausen-Applebaum disease

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