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 does C282Y mutation mean?
Abstract. Hereditary hemochromatosis is an autosomal recessive disorder associated with the mutation of the HFE gene. C282Y and H63D mutations in this gene have been described. Hereditary hemochromatosis is primarily associated with the C282Y mutation; the importance of H63D is not well known.
What type of mutation is C282Y?
Several different mutations of the HFE gene have been identified as causing classic hereditary hemochromatosis. Most individuals with classic hereditary hemochromatosis inherit two copies of a specific HFE gene mutation known as “C282Y”.
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.
What is HFE gene mutation test?
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.
How common is HFE gene mutation?
Prevalence and penetrance of HFE-HH The HFE mutation C282Y occurs in approximately 6% of Caucasians77 and thus represents the most common genetic variant among this population.
Is H63D a hemochromatosis?
H63D is most famous for being involved in something called hereditary hemochromatosis. Basically people with this disease have too much iron in their blood. Typically, this disease is easily controlled by frequent blood donations that help keep the amount of iron in a persons’ body at a safe level.
How does C282Y cause haemochromatosis?
Many mutations in the body’s iron transport system can cause hemochromatosis; however, most cases are caused by mutations in the HFE gene. This is located on chromosome 6, and one mutation leads to the substitution of the 282nd amino acid. Cysteine becomes tyrosine, therefore the mutation is called C282Y.
What chromosome is HFE found on?
In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21. 3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands.
What is the HFE C282Y mutation?
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. People who are heterozygous for the C282Y mutation have slightly but significantly higher values for serum iron and transferrin
Which HFE mutation causes hemochromatosis?
. The HFE mutation that most commonly causes hemochromatosis is called C282Y. Another HFE mutation that may lead to iron overload is called H63D. People with two copies of C282Y are most likely to have iron overload. People with one copy of H63D and one copy of C282Y may also have iron overload, but this is less common and usually less severe.
What percentage of hemochromatosis is C282Y?
Depending on the population studied, 1.5% to 16.4% of patients presenting with the hemochromatosis phenotype carry only a unique C282Y allele.7,11–15 Hemochromatosis in such patients suggests genetic and/or allelic heterogeneity.
What are the effects of the C282Y mutation on iron levels?
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.