What is it?

Our Genetic Haemochromatosis Test involves genotyping (by RT-PCR) of three SNPs within the HFE gene: C282Y, H63D, and S65C. These variants are commonly associated with an increased risk of developing haemochromatosis.

C282Y, H63D, and S65C are specific mutations in the HFE gene, which is associated with hereditary hemochromatosis, a genetic disorder that causes the body to absorb too much iron from the diet, leading to iron overload.

1. C282Y: This is the most common mutation associated with hereditary hemochromatosis. Individuals who are homozygous for the C282Y mutation (having two copies of the mutation) are at a high risk of developing iron overload. This mutation changes the amino acid cysteine to tyrosine at position 282 of the HFE protein, which disrupts the protein's normal function in regulating iron absorption.

2. H63D: This is another mutation in the HFE gene, where the amino acid histidine is replaced by aspartic acid at position 63. It is less strongly associated with hereditary hemochromatosis than C282Y. Individuals who are compound heterozygotes (having one C282Y and one H63D mutation) have a moderate risk of developing iron overload.

3. S65C: This mutation is less common and generally considered to have a milder effect compared to C282Y and H63D. It involves the substitution of serine for cysteine at position 65. When present along with another mutation like C282Y, it can slightly increase the risk of iron overload, but on its own, it typically poses a lower risk.

Testing for these mutations is often used to diagnose hereditary hemochromatosis or to assess the risk of developing iron overload.

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