What does C282Y mutation mean?
Life expectancy is usually normal if phlebotomy is initiated before the development of cirrhosis or diabetes mellitus. Hereditary hemochromatosis is associated with mutations in the HFE gene. Between 60 and 93 percent of patients with the disorder are homozygous for a mutation designated C282Y.
What type of mutation is C282Y?
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.
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?
This is the most common variant of the condition in the UK, affecting 9 in every 10 people diagnosed. People with this variation tend to load iron much more quickly compared to other people with genetic haemochromatosis (GH).
How common is haemochromatosis?
Hereditary hemochromatosis affects one in 300 people in the United States. However, it often goes undiagnosed, partially due to its nonspecific symptoms. The classic form of hemochromatosis is most common in Caucasians of Northern European descent. It is a genetic disease that may be found in families.
What type of gene mutation is haemochromatosis?
Gene mutations that cause hemochromatosis The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene. If you inherit 2 abnormal genes, you may develop hemochromatosis. You can also pass the mutation on to your children.
How common is C282Y mutation?
Based on our results, homozygosity for the C282Y mutation was estimated to occur in 0.26% (95% CI, 0.12%-0.49%) of the total US population, and compound heterozygosity (C282Y/H63D) in approximately 2% (Table 1).
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.
Is hemochromatosis caused by the C282Y or H63D mutation?
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. In previously reported studies, the C282Y mutation was not detected in Turkey. We herein present a family in which the C282Y mutation was detected.
What is the pathophysiology of C282Y and H63D?
Compound heterozygozity for C282Y and H63D, a very widespread condition in our area, is usually associated with mild iron overload. Third, HFE sequencing can be undertaken and may identify new HFE variants as described here.
How to diagnose C282Y heterozygotes with iron deficiency anemia?
First, clinical examination and the assessment of iron parameters (SF and TS) allow identifying C282Y heterozygotes with an abnormal iron status. Once extrinsic factors such as heavy alcohol intake, virus or a dysmetabolic syndrome have been excluded, MRI is very useful to authenticate a high liver iron content.