Haemochromatosis, Type 1

What is haemochromatosis, type 1?

Haemochromatosis, type 1, the most prevalent form of haemochromatosis, causes the body to absorb and store too much iron from a normal diet. The excess iron is stored in the body's tissues and organs, particularly the liver, heart, pancreas, and joints.

Haemochromatosis, type 1 is a subtype of haemochromatosis.

Symptoms of type 1 haemochromatosis usually begin in the 40s or 50s in males and after menopause in females. Many patients have no signs or symptoms (asymptomatic) in early stages of the condition. Early symptoms are nonspecific and may include fatigue, joint pain, abdominal pain, impotence, or loss of sex drive. Later signs and symptoms include arthritis, liver disease, diabetes, heart abnormalities, and bronze or gray skin pigmentation.

How common is haemochromatosis, type 1?

Type 1 haemochromatosis is one of the most common genetic disorders in the United States. It most often affects Caucasians (whites) of Northern European descent. Among the U.S. Caucasian population, about 1 in 200 people (0.5 percent) are susceptible to developing this condition. Type 1 haemochromatosis is very rare among people with other ethnic backgrounds.

What genes are related to haemochromatosis, type 1?

Mutations in the HFE gene cause haemochromatosis, type 1.

Although the normal HFE gene function is not clearly understood, the gene is known to produce a protein that interacts with other proteins on the cell surface. Through this interaction, HFE protein helps control the amount of iron that is absorbed from food during digestion. A mutated gene produces an abnormal HFE protein that cannot interact properly with cell surface proteins. The impaired protein interactions disrupt the control of iron absorption, resulting in excess iron deposits that can lead to haemochromatosis.

How do people inherit haemochromatosis, type 1?

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 1?

  • 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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