Usefulness of an Early Diagnosis
Hereditary hemochromatosis is the most frequently occurring of the genetic diseases, with a prevalence of approximately one in two hundred among the Causasian population in North America. Hemochromatosis is a recessive autosomal disease that is reflected in abnormally increased digestive absorption of iron. The accumulation of iron causes damage to several organs, including the heart, liver, joints and endocrine glands. The main clinical manifestations are as follows: heart failure, hepatic cirrhosis, arthritis, diabetes, hypothyroidism, hypogonadism and erectile dysfunction. It is very easy, through blood-letting, to prevent all tissue damage caused by the iron overload. However, this implies early diagnosis of hemochromatosis. Unfortunately, the disease is often diagnosed when the clinical symptoms are already present, signalling potentially irreversible damage to some organs.

Discovery of the Gene Responsible for Hemochromatosis (HFE)
A major breakthrough was made in the diagnostic approach to this disease with the identification, by a group of American scientists in 1996, of the gene responsible for the vast majority of hemochromatosis cases. This gene, known as HFE, is located on the short arm of chromosome 6, near the locus HLA. The discovery of this gene opens the doorway for the first time to the early diagnosis of this insidious disease, since it is now possible to detect the abnormality in the genes even before any significant intra-tissue accumulation of iron becomes apparent.

Screening for Abnormalities in the HFE Gene
Two missense mutations, C282Y and H63D, have been identified in the HFE gene. The C282Y mutation is present in the majority of patients with hemochromatosis, and in the homozygous state (where both the paternal and maternal chromosomes have the mutation). While the C282Y mutation occurs more frequently, a significant number of patients with hemochromatosis are compound heterozygotes for the C282Y and H63D mutations (i.e. they have a copy of each). In fact, in the Canadian population, 94% of the cases of hereditary hemochromatosis are associated with an abnormality in the HFE gene. Genetic screening for the HFE gene is thus a useful tool in investigating an iron overload. The two mutations associated with hemochromatosis can be pinpointed easily through HFE genotyping.

Indications for HFE Genotyping

• Increase in the transferrin saturation level (> 50%)
  
• Increase in the serum ferritin level (> 400 mg/ml in men and > 200 mg/ml in women)
  
• Clinical suspicion of hemochromatosis
  
• When the patient is related to a person with hemochromatosis
  

Sampling and Characteristics
A prescription from your physician is required in order for this test to be performed.
Contact our laboratory to find out the location of the sampling centre nearest you.
HFE genotyping is performed using a blood sample (EDTA tube – 5 ml) or a buccal swab.
HFE genotyping includes screening for the C282Y and H63D mutations.
A test report, including the HFE genotype and an interpretation thereof, will be sent to your physician within less than two weeks.

Terms of Payment
In most cases, private insurance companies will cover the cost of this test.