Blog / November 24, 2020

What does the HFE gene do?

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.

What is HFE blood test?

Test Overview Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs.

What is HFE C282Y?

Cys282Tyr (C282Y) mutation of the HFE gene is the main genotype associated with the common form of adult hereditary hemochromatosis. C282Y carriers do not usually develop iron overload, unless they have additional risk factors such as liver diseases, a dysmetabolic syndrome or an associated genetic defect.

What is a HFE carrier?

You’re only at risk of haemochromatosis if you inherit the faulty HFE gene from both of your parents. If you only inherit the faulty gene from 1 parent, you’ll be at risk of passing it on to your children – known as being a “carrier” – but you will not develop haemochromatosis yourself.

What is the life expectancy of a person with hemochromatosis?

Cumulative survival was 76% at 10 years and 49% at 20 years. Life expectancy was reduced in patients who presented with cirrhosis or diabetes compared to patients who presented without these complications at the time of diagnosis.

What is the HFE gene mutation?

Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D.

How long does a HFE test take?

You will receive the results of this test within 4-6 weeks. If the test confirms that you have genetic haemochromatosis, either your GP or a genetic counsellor will contact you to explain the results. There are three common variations of genetic haemochromatosis : C282y/c282y (also known as “c282y homozygous”).

What is heterozygous C282Y?

People who are heterozygous for the C282Y mutation have slightly but significantly higher values for serum iron and transferrin saturation and are less likely to have anaemia because of iron deficiency.

Is H63D a hemochromatosis?

The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver.

What are warning signs of hemochromatosis?

Initial symptoms of haemochromatosis can include:

feeling very tired all the time (fatigue)
weight loss.
weakness.
joint pain.
an inability to get or maintain an erection (erectile dysfunction)
irregular periods or absent periods.

Can hemochromatosis be reversed?

There’s currently no cure for haemochromatosis, but there are treatments that can reduce the amount of iron in your body. This can help relieve some of the symptoms and reduce the risk of damage to organs such as the heart, liver and pancreas.

Is the HFE S65C mutation enriched in patients with high ferritin?

In conclusion, we found that the HFE S65C mutation was enriched in patients with high serum ferritin or increased Tf saturation compared with healthy controls. Half of our patients carrying the S65C mutation had evidence of mild or moderate hepatic iron overload (grade 1 or 2) but no signs of extensive fibrosis.

Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption.

What is the S65C mutation in hemochromatosis?

Accordingly, the S65C mutation is only reported when it is part of the C282Y/S65C compound heterozygous genotype. This assay detects the C282Y, H63D, and S65C mutations in the HFE gene to help identify those who are at increased risk for hereditary hemochromatosis.

What do we know about the S65C variant of human hepatocellular leukemia?

A third mutation in the HFE gene, S65C, was found to be enriched on chromosomes from French HH patients compared with healthy controls. However, its clinical importance remains controversial as the S65C variant was found not to be associated with increased Tf saturation in healthy Canadian blood donors.