HFE Mutations

HFE gene, which is located on chromosome 6, provides instructions for making a protein that helps regulate the absorption of dietary iron in the small intestine by encoding a transmembrane protein called the “human homeostatic iron regulator protein”. HFE mutations are genetic variations in the HFE gene. Mutations in the HFE gene can lead to an iron overload disorder known as hereditary hemochromatosis.

Hereditary hemochromatosis is a genetic disorder that causes the body to absorb and accumulate too much iron from the diet. Over time, this excess iron can build up in various organs, especially the liver, heart, and pancreas, leading to tissue damage and increased risk of conditions like liver disease, diabetes, and heart problems.

There are several common mutations in the HFE gene associated with hereditary hemochromatosis:

  • C282Y Mutation: This mutation involves a change in the DNA sequence at position 282 in the HFE gene. The C282Y mutation is the most common mutation associated with hereditary hemochromatosis, particularly in individuals of Northern European descent.
  • H63D Mutation: This mutation involves a change at position 63 in the HFE gene. The H63D mutation is another common variant associated with hereditary hemochromatosis, although it is generally considered to be less severe than the C282Y mutation.
  • S65C Mutation: This is a less common mutation in the HFE gene and is associated with a milder form of hereditary hemochromatosis.

Individuals who inherit two copies of the C282Y mutation (homozygous for the C282Y mutation) or one copy each of C282Y and H63D (compound heterozygous for C282Y and H63D) are at a higher risk of developing hereditary hemochromatosis. However, not everyone with these mutations develops the condition, as other genetic and environmental factors also play a role in the disease’s manifestation. If someone has a family history of hereditary hemochromatosis or shows symptoms of iron overload (such as fatigue, joint pain, or abnormal liver function tests), genetic testing can help confirm the diagnosis. Early detection and management of hereditary hemochromatosis can prevent complications and improve the quality of life for affected individuals.

  • Sanger sequencing
  • Blood
  • 7 days

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