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).
What is C282Y mutation?
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.
Is C282Y an allele?
The C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution.
What is C282Y homozygote?
Implications for patient. Iron overload may arise when someone inherits two copies of the C282Y variant (homozygous). The majority (80-93%) of those who are clinically affected have this genotype with 1 in 160 (0.6%) people in the European population are C282Y homozygotes.
How does haemochromatosis affect the body?
Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.
Why does hemochromatosis exist?
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. These mutations are passed from parents to children. This type of hemochromatosis is by far the most common type.
Why did hemochromatosis develop in our genome?
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 is the C282Y mutation?
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.1,2 Iron promotes the generation of free radicals, which leads to mutagenesis, atherosclerosis, inflammation, and bacterial growth.
What do we know about C282Y carriers?
Patients and Methods: We recently investigated four C282Y carrier patients with unusually high iron parameters, including increased levels of serum ferritin (SF), high transferrin saturation (TS) and high iron liver content measured by MRI. They were males, aged 37, 40, 42, 47 at diagnosis.
Is the C282Y HFE gene mutation a risk factor for heart disease?
The C282Y mutation in the HFE gene was investigated in a series of 1279 consecutive patients with determined coronary status. The mutation was not associated with an increased risk of coronary artery disease or severity of coronary lesions.
What is the risk of CAD in carriers of C282Y?
Carriers of the C282Y mutation had a 1.5-fold (95% CI 0.9 to 2.5) risk for the presence of CAD, there was no significant difference (p=0.10).
