July 3, 2024

Hemochromatosis: what is it?

Fatigue and pain... two unspecific symptoms that are quite common. And yet, they can be the first signs of the disease the most common genetics in France: hemochromatosis. This pathology, due to excessive absorption of dietary iron by the body, currently affects 1 in 300 French people, or 200,000 patients in the Hexagon. "This fatigue is insidiously installed. Sloth? A disgust of life? My family did not want believe in. So I went to consult ", explains JLH. As this patient, from the appearance of the first signs, the reflex to have is to make an appointment with a general practitioner. It is important to take the problem sufficiently in time to eventually detect the disease. A first blood test is often necessary. If the results show an iron overload, it is necessary to take another blood test to establish a genetic diagnosis.

"We detected my disease when I was 35, today I have 60 "explains Marc Triqueneaux, who has hemochromatosis. "The first 18 months, I was bleeding a week. Then, it was every 15 days. Today is every 3 months. I prefer that to pharmaceuticals. But in fact the whole problem is there. As the disease does not require pharmaceuticalsit does not generate savings and does not generate interest in research. " An impression that can be counterbalanced by the recent discoveries of the team of Marie-Paule Roth and Hélène Coppin of INSERM Toulouse who found in March 2009 the molecule that allows iron to activate the synthesis of hepcidin regulating the absorption of iron. This opens the way to a therapeutic alternative to bleeding and therefore more information on this disease.

"If we make people aware of the first symptoms, we avoid certain complications that may arise, hence the importance of screening as early as possible, around 25-30 years"explains Professor Sogny, a lecturer in Paris. By communicating more about the existence of hemochromatosis, the number of early detection can be increased. Complications such as cirrhosis, diabetes worsening and heart attack will be taken on time and a tragic outcome avoided.



Mayo Clinic: William Palmer, M.D. - Hereditary Hemochromatosis (July 2024)