Genetic tests can confirm a diagnosis and help identify family members who are at risk for hemochromatosis. Most commonly, the genetic test is performed with a cheek swab.
What causes Hemochromatosis?
Type I hemochromatosis is caused by defects (mutations) in the HFE gene. HFE has many purposes, but one important role is that it helps to control the amount of iron that is absorbed from food. There are several known mutations in the HFE gene, but presently testing for only three is available: C282Y, H63D, and S65C.
Everyone inherits two copies of HFE, one from Mom and one from Dad.
When a person has one mutated copy, he or she is called a carrier or heterozygote. When a person has two of the same mutated copies, he or she is called a homozygote. When a person has two different – but mutated – copies, he or she is called a compound heterozygote.
Genetics can be very difficult to understand at first. What is most important is that you know which gene combination causes the greatest known risk of loading iron.
Most at Risk
C282Y homozygote and the C282Y/H63D compound heterozygote
H63D homozygote or other compound heterozygote combinations
C282Y heterozygote (carrier); H63D heterozygote (carrier) or S65C heterozygote (carrier)
Risk can be modified by other genes, the environment, or unknown factors. Therefore, anyone with a mutated copy of HFE should periodically ask their doctor to check iron levels through hemoglobin, fasting serum iron, TIBC, and serum ferritin.