Haemochromatosis, Type 3

What is haemochromatosis, type 3?

Haemochromatosis is a disorder that causes the body to absorb and store too much iron. The excess iron is stored in the body's tissues and organs, particularly the heart, liver, pancreas, and joints. Type 3 haemochromatosis is very similar to type 1 haemochromatosis, but these disorders are caused by mutations in different genes. Genetic testing is necessary to distinguish type 3 from type 1.

Haemochromatosis, type 3 is a subtype of haemochromatosis.

The signs and symptoms for type 3 haemochromatosis are similar to those of the more common type 1 haemochromatosis, but symptoms of type 3 can begin before the age of 30 years. Early symptoms can include fatigue, joint pain, abdominal pain, impotence, and loss of sex drive. As the disease progresses, patients may experience more serious conditions such as liver disease, diabetes, and heart abnormalities.

How common is haemochromatosis, type 3?

Type 3 haemochromatosis is rarer than type 1 haemochromatosis. It has been described in families from Italy and other southern European countries. Its incidence in the United States is unknown.

What genes are related to haemochromatosis, type 3?

Mutations in the TFR2 gene cause haemochromatosis, type 3.

The TFR2 gene normally makes a protein called transferrin receptor 2, which is found on the surface of liver cells and cells from other tissues. The role of this protein is poorly understood, but it is probably involved in the regulation of iron absorption, particularly by the liver. Mutated TFR2 genes produce little or no normally functioning transferrin receptor 2 protein. As a result, the control of iron absorption is disrupted, leading to iron overload and possible organ damage.

How do people inherit haemochromatosis, type 3?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for haemochromatosis, type 3?

  • Bronzed cirrhosis
  • Bronze Diabetes
  • Familial Haemochromatosis
  • genetic haemochromatosis
  • Haemochromatosis
  • Haemochromatoses
  • Haemochromatosis, hereditary; HH
  • Hereditary Haemochromatosis (HHC)
  • idiopathic haemochromatosis
  • Iron storage disorder
  • Pigmentary cirrhosis
  • Primary Haemochromatosis

© Medic8 ® All Rights Reserved.