The HFE gene controls how much iron you absorb in the intestines from food. Iron is tightly regulated by the body. It is completely essential for carrying oxygen in the bloodstream and for many other reactions in the body. But too much iron is a big problem since it is very reactive — think about how quickly iron things rust when left outside.
A couple of mutations in the HFE gene increase the amount of iron absorbed from food. This causes increased iron storage in various tissues in the body. Eventually, this can lead to hemochromatosis, or iron overload. Symptoms of too much iron can include joint pain (often moving from joint to joint) and fatigue. Hemochromatosis can involve organ dysfunction as iron gets stored in the liver, pancreas, heart, skin, and brain.
- A/A: most common cause of hereditary hemochromatosis, highest ferritin levels (two copies of C282Y)
- A/G: increased ferritin levels, can cause hemochromatosis, more of a problem if also carrying rs1799945 – C/G or G/G (below)
- G/G: normal
Members: Your genotype for rs1800562 is —.
Check your genetic data for rs1799945 (23andMe v4, v5; AncestryDNA):
- G/G: can cause mild hemochromatosis, increased ferritin levels (two copies of H63D)
- C/G: somewhat higher ferritin levels
- C/C: normal
Members: Your genotype for rs1799945 is —.
Want more details? If you have either of the genetic variants above, get further information by reading the full article on iron overload — or talk to your doctor.
*SNP stands for Single Nucleotide Polymorphism, which is when one of the nucleotide bases (the A, C, G, or Ts) is replaced by a different nucleotide base in a gene. Want to know more about your genes? Read through all the Snips about SNPs.