Hemochromatosis is the first genetic disease in France; easy to diagnose, easy to treat, mild if diagnosed at age 20-35; often serious and sometimes fatal, thirty years later. We just found the regulating hormone. On the other hand, the treatment already existed at the time of Molière.
Little is said about the importance of iron in our body, and yet, without it, life is impossible. It is vital for our cells, serving as a catalyst for most of the chemical reactions that take place there. It is thanks to him that we can oxygenate our blood by breathing, because he fixes the oxygen breathed in to the hemoglobin of the red blood cells. Food provides an average of 15 to 20 mg of iron per day. Absorption by the intestine is proportional to needs, and is generally limited to 10% of iron, or 1 to 2 mg per day, to maintain a good balance in the body.
In the case of hemochromatosis, the body absorbs all the iron, without being able to eliminate the surplus. The excess – while it only takes a few grams, some store 1 kilo – is distributed in several organs including the brain, the heart, and especially the liver where it ends up triggering serious disorders, diabetes, cirrhosis , or cancer. But the symptoms of hemochromatosis can be much more harmless and do not draw attention to iron overload: rheumatism, sexual disorders, depression, osteoporosis, unexplained fatigue… A real medical encyclopedia in which doctors get lost, the only explanation the discrepancy between the number of people affected and the very low awareness of this disease. It takes 10 years on average to arrive at this diagnosis, which is easy enough: a simple blood test is enough, in the vast majority of cases.
Hemochromatosis comes to us from the Celts: about 4,000 years ago, somewhere in Northern Europe, a Celtic child was, by pure chance, the victim of a genetic mutation during his conception. Today, the descendants of this child carry their trademark on their genes. Unknown in the black and North African population, not widespread in Spain and Italy, hemochromatosis is very common in Celtic land, that is to say in Ireland and on our territory in Brittany.
The most common genetic disease is also the only disease that we know how to treat. Its treatment is another originality of the disease and borrows the favorite remedy of Molière’s doctors: bleeding. This therapy of comedy treats perfectly today the 200,000 people who suffer from it. A few hundred milliliters of blood which must be punctured regularly to reduce the stock of iron contained in the body. Three to four bleedings per week – each equivalent to a blood donation – for several months, which allow the elimination of red blood cells very rich in iron: 500 ml of blood collected correspond to a loss of 250 mg of iron. To make new red blood cells, the body needs iron molecules. He will therefore draw them from the overloads deposited on the various organs. Gradually, we can space out the bleeding, but the rediscovered well-being makes the gesture almost pleasant! Effective and modern treatment provided that hemochromatosis is detected in time. You must ask your doctor to prescribe, at least once in your life, before the age of 35, the dosage of iron in the blood. A very simple and inexpensive examination that will make the diagnosis.
It is to Professor Axel Kahn and his collaborators at the Cochin Institute in Paris that we owe a fundamental discovery for the future: that of a hormone that has been sought after for more than 40 years. Hepcidin – that’s its name – is to iron what insulin is to sugar. The regulator, which decides the penetration of iron at the level of our intestine. The discovery of hepcidin undoubtedly opens a new window on iron-related diseases. In the short term, we should have a test to measure this hepcidin in the blood. To first make the diagnosis. As for the long-term therapeutic repercussions – one can dream of hepcidin accelerators or brakers that are more high-tech than bleeding – they should be considerable.
Doctor Jean-Francois Lemoine
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