Hemochromatosis – designation of the C282Y, H63D, S65C mutation in the HFE gene

• The test is collected at a dedicated Collection Point.
• The patient does not need to fast. It is recommended to drink a glass of water approximately 30 minutes before the examination.

Samples brought from outside are not accepted for testing.

"Hemochromatosis – designation of the C282Y, H63D, S65C mutations in the HFE gene.
Hemochromatosis is a congenital disease characterized by a disorder of iron metabolism. It is an autosomal recessive disease and occurs in approximately 1:300-350 people in the Northern European population. As a result of excessive iron absorption from the gastrointestinal tract, the body becomes overloaded with iron, which leads to damage to the heart (cardiomyopathy), liver (cirrhosis, increased risk of developing primary hepatocellular carcinoma), pancreas, and joints. The first symptoms of the disease include weakness and chronic fatigue, as well as joint and abdominal pain. Subsequently, liver failure, diabetes, cardiac arrhythmias, and a gradually progressive gray-brown discoloration of the skin develop. The most common cause of hemochromatosis are two mutations in the HFE gene: C282Y and H63D. The majority of patients (64-95% of cases) have a homozygous C282Y mutation. Homozygous or heterozygous mutations C282Y, H63D and S65C"

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