HFE

Genetic marker for hemochromatosis

DNA-HFE genotype

DNA-HFE genotyping is a genetic analysis of the HFE gene used in the investigation of hereditary hemochromatosis and a hereditary predisposition to iron overload. The analysis typically covers the HFE variants C282Y and H63D.

BACK TO WORK⚡: 10% discount on entire range – use code TILLBAKA10 Health checks for increased well-being

Go to the campaign Browse healthchecks

Contents

What is the DNA-HFE genotype?

The DNA-HFE genotype is a genetic analysis of the HFE gene, which plays a role in the body's regulation of iron absorption. Certain genetic variants in the HFE gene can increase the tendency to absorb and store excessive iron and are associated with hereditary hemochromatosis.

HFE genotyping typically analyzes the two most common variants:

Depending on the laboratory, these variants may be reported individually or combined into a single result for the DNA-HFE genotype.

Why is the HFE genotype analyzed?

The analysis is primarily used when investigating suspected hereditary hemochromatosis or when blood tests show signs of increased iron storage, such as elevated transferrin saturation or ferritin levels. The analysis may be relevant in cases of:

  • suspected hereditary hemochromatosis
  • elevated transferrin saturation
  • elevated ferritin
  • unexplained iron overload
  • family screening for known HFE-related hemochromatosis

The HFE gene and hereditary hemochromatosis

Hereditary hemochromatosis is an inherited condition in which the body absorbs more iron from the diet than it needs. Over time, the excess iron can accumulate in organs such as the liver. The genetic variant most strongly linked to classic HFE-related hemochromatosis is C282Y. Individuals with the C282Y variant on both copies of the HFE gene have an increased risk of developing iron overload, although not everyone with this genotype develops the disease. The H63D variant is generally of significantly less clinical significance and does not, in itself, usually lead to the development of hereditary hemochromatosis. However, it can occur in conjunction with C282Y or other factors affecting iron metabolism.

How is the HFE genotype interpreted?

The result describes which HFE variants have been identified and whether they are present on one or both copies of the gene. A genetic finding does not automatically mean that the individual has iron overload or hereditary hemochromatosis. The result must therefore be evaluated alongside other data, such as ferritin levels, transferrin saturation, and other clinical information. In the event of an abnormal genetic result or concurrently elevated iron parameters, a medical assessment and further follow-up may be warranted.