L’hemochromatosis is a genetic disease affecting nearly 300,000 people in France and causing nearly 2,000 deaths. This hereditary disease is linked to the disappearance of hepcidin (iron hormone) which regulates the absorption of iron in the digestive tract. Dietary iron is then absorbed in excess and gradually accumulates in the body where it can in the long run cause damage, sometimes irreversible, to most organs.
One in 300 French people has a genetic predisposition to hemochromatosis. If it is not treated in time, the consequences are serious, while it is easy to detect and easy to treat. In a third of cases, the disease is discovered by chance and often too late. At the time of diagnosis, more than one out of two patients has already irreversible complications. However, fatigue and joint pain, often associated, should attract the attention of the doctor, especially since a simple transferrin blood test is enough to establish the diagnosis. The latter must be confirmed by a genetic test.
“Its clinical evocation has become difficult due to the aspecific character of the presenting symptoms (tired, joint pain…). The diagnosis is simple, a single blood test is enough: increase in the transferrin saturation coefficient, and presence of the C282Y mutation in the homozygous state. The treatment by iterative bleeding is simple, all the more effective as the diagnosis is early and makes it possible to avoid serious complications”, recalls the French Federation of Associations of Patients of Hemochromatosis in a communicated.
Tomorrow: an early diagnosis?
As a result of this unsuitable medical situation, this awareness week set up by the FFAMH should allow the reflex diagnosis of hemochromatosis in medical consultation. An information document “How not to miss hemochromatosis” will be distributed during this week to provide the best information on this disease and its symptoms.
Learn more: www.hemochromatosis.org
Read also:
Hemochromatosis: a widespread but little-known disease
Hemochromatosis: 5 things to know
What may be hiding behind your fatigue
