Digestive System
Medications
Related eMedTV
Health Channels

Hemochromatosis Gene

The hemochromatosis gene (called HFE) regulates how much iron is absorbed from the food we eat. Mutations in the gene cause hemochromatosis. When one copy of the mutated gene is inherited from one parent, the child is a carrier but usually has no associated symptoms. When a child inherits two copies of a mutated hemochromatosis gene (one from each parent), he or she is more likely to develop the condition.

 

Is There a Hemochromatosis Gene?

The gene that causes genetic or hereditary hemochromatosis, called the HFE gene, was first identified on chromosome 6 in 1996. This "hemochromatosis gene" helps regulate the amount of iron absorbed from food. When a mutation (change) occurs to the hemochromatosis gene, there is a chance that a person can develop hemochromatosis.
 

Understanding the HFE Gene

The HFE gene provides instructions for producing a protein that is located mainly on the surface of intestinal cells, liver cells, and some cells in the immune system. During digestion, this protein helps certain cells regulate the absorption of iron into the small intestine by interacting with other proteins located on the cell surface. The body uses this mechanism to help monitor its supply of iron. When the proteins involved in iron sensing and absorption are functioning properly, the body absorbs only about 10 percent of the iron ingested in the diet.
 
Hemochromatosis research suggests that the HFE protein also helps control levels of another important iron regulatory protein, hepcidin. Adequate levels of hepcidin are necessary to ensure that the body does not absorb and store too much iron in its tissues and organs.
 
(Hemochromatosis Gene Continued: Page 2)
Add this article to your Favorites     Email this article     Print
Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD