What is hemochromatosis

What is hemochromatosis

Hemochromatosis (also called genetic hemochromatosis or hereditary hemochromatosis) is a genetic and inherited disease responsible for excessive iron absorption through the intestine and its accumulation in the body.

The causes of hemochromatosis

Hemochromatosis is a genetic disease linked to a mutation of one or more genes. These mutations are observed in different regions of the world and each correspond to a more or less serious expression of the disease.

THEhemochromatosis hereditary HFE (also called type I hemochromatosis) is the most common form of the disease. It is linked to a mutation in the HFE gene located on chromosome 6.

Frequency of the disease

Hemochromatosis is one of the most common genetic diseases.

About 1 in 300 people carry the genetic defect that predisposes the disease to onset1. But what must be understood now is that the disease can have a clinical expression of variable intensity so that severe forms of hemochromatosis remain rare.

People affected by the disease

The men are more often affected than women (3 men for 1 woman).

Symptoms appear most often 40 years after but can begin between 5 and 30 years old (juvenile hemochromatosis).

The disease is more frequently observed in certain regions of the world, for example in the United States or in northern Europe. It is not found in the countries of Southeast Asia or in the black population.

In France, some regions (Brittany) are more affected.

Leave a Reply