Posted on 05/31/2022 at 3:46 p.m.,
Reading 2 mins.
June 1-7, 2022 is Hemochromatosis Awareness Week, a common genetic condition that causes iron overload. On this occasion, the Hemochromatosis France association recalls the importance of screening.
World Hemochromatosis Week is celebrated every year during the first week of June. The objective of the campaign? Raising public awareness of this genetic disease which affects nearly one in a thousand people in France.
Hemochromatosis: 2,500 French people die from it every year
Hemochromatosis is the first genetic disease in France. It is characterized by the abnormal absorption of iron contained in food, by the digestive tract.
Eventually, this iron accumulates in all the organs and ends up damaging them (cirrhosis, cancer of the liver, pancreas, heart failure, etc.). The patient can also cause a dark coloring of the skin (also called “melanoderma”), depression, osteoarthritis, osteoporosis, diabetes…
The problem ? The disease remains very little known to the general public and the first symptoms are often difficult to identify. Great fatigue, pain in the joints, sexual problems or even a slight tachycardia can thus occur.
“Genetic hemochromatosis can be silent for many years”recalls the Hemochromatosis France association.
This is why this genetic mutation (two mutations in the HFE gene are the cause of hemochromatosis) is often diagnosed between the ages of 50 and 70, while iron overload starts between the ages of 20 and 35.
If diagnosed late, the disease can be fatal.
The diagnosis of hemochromatosis is based on various biological examinations to be carried out with your attending physician.
“The two analyzes to be done from the age of 18-20 to detect the disease are the transferrin saturation coefficient and ferritin, on a simple fasting blood test”confirms the association.
Then, if the saturation coefficient is greater than 45% (checked at least twice), genetic testing by blood test is recommended to confirm the diagnosis or not (a homozygous C282Y gene mutation or double heterozygous C282Y/H63D gene mutation will be sought).
Bloodletting treatment is implemented depending on the ferritin level.
If hemochromatosis is confirmed, additional examinations may be prescribed to assess the condition and functioning of potentially affected organs (liver, heart, pancreas, testicles, bones, etc.).