What does C282Y mutation mean?

Heterozygous: Having one copy of the abnormal HFE gene, for example C282Y or H63D – also known as a ‘carrier’. Homozygous: Two copies of the same gene abnormality, for example C282Y and C282Y.

What type of mutation is C282Y?

The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis. Mice carrying each of the two mutations were bred and analyzed.

What is 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. Genetic testing can reveal whether you have these mutations in your HFE gene.

What does heterozygous for C282Y mutation mean?

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.

What happens if you are a carrier of haemochromatosis?

If left untreated , haemochromatosis can lead to arthritis, liver damage, and premature death. As it is an inherited disorder, people with hereditary haemochromatosis carry two faulty genes – one from each parent. A person with one faulty gene is a ‘carrier’ and won’t develop the condition themselves.

What is the life expectancy of someone with hemochromatosis?

Most people with hemochromatosis have a normal life expectancy. Survival may be shortened in people who are not treated and develop cirrhosis or diabetes mellitus.

Can I drink alcohol if I have hemochromatosis?

Alcohol consumption associated with genetic factors increases the severity of hereditary hemochromatosis and therefore the risk of cirrhosis and cancer. Consequently, patients who have the disease should be discouraged from consuming excessive quantities of alcohol because of the added hepatotoxicity it induces.

Can you drink alcohol if you have hemochromatosis?

What is the life expectancy of someone with haemochromatosis?

Survival and causes of death were analyzed among 163 patients with hemochromatosis diagnosed between 1959 and 1983. Mean followup was 10.5 +/- 5.6 years (+/- SD). Cumulative survival was 76% at 10 years and 49% at 20 years.

What is the role of the C282Y mutation in HFE?

The C282Y mutation in the HFE (hemochromatosis) gene is the main one that causes hemochromatosis, and 83% of hemochromatosis patients are YY homozygotes (1).

Who are carriers of the C282Y gene mutation?

Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers.

Can a C282Y mutation cause iron overload?

Introduction: Homozygozity for the p.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.

Which is the HFE gene that causes hemochromatosis?

The C282Y mutation in the HFE (hemochromatosis) gene is the main one that causes hemochromatosis, and 83% of hemochromatosis patients are YY homozygotes ( 1 ). The second variant of the HFE gene, the H63D polymorphism, is not per se associated with hemochromatosis, but it acts synergistically with the C282Y mutation ( 1 ).