Hemochromatosis is the most widespread inherited illness in Europe. It concerns a disturbance in the balance of iron caused by a gene mutation in which the absorption of iron cannot be controlled, causing the body to take in too much iron. The excess iron then becomes stored in various organs of the body, which could lead to cirrhosis of the liver, so-called "bronze diabetes," heart disease, and even liver cancer.
The first sign of symptoms show up in men between the ages of 20-40. In women, symptoms appear later--usually after menopause-because, up to that point, the absorption of excess iron is equalized by blood lost during menstruation. With regular bloodletting, the excess iron could be eliminated and may no longer cause further damage to the body. When looked at in this way, the illness can be easy to fight against. However, it is important to recognize it early because once damage has been done, it cannot be reversed and the afflicted person will suffer for the rest of his or her life. The symptoms of Hemochromatosis are very similar to those of a high dependency to alcohol; thus, doctors often misdiagnose it, leaving patients to be falsely diagnosed as alcoholics.
Proving the existence of Hemochromatosis in a patient can be carried out using a gene test. Only a homozygote mutation spells illness. When only one gene is changed, i.e., heterozygote, the person merely acts as a genetic carrier and has, by rule, no problems. Under highly sterile and anonymous conditions, we checked our own blood for both mutations and struck an amazing, yet shocking balance.Out of eighteen tested samples, four were heterozygote and one was even homozygote. That means five of us are carriers of the mutation and one of us is in danger of suffering from hemochromatosis.
Another method of checking to see if there is a disturbance in iron balance is to measure the concentration of ferritin, a protein produced by the body, which is important for storing iron. By checking the amount of ferritin, one can determine if there is a high iron concentration.
Throughout the course of our project, we had the chance to test out a completely new and affordable lab tool for ferritin analysis from the company EUROlyser before it even came on the market. This tool carries out an analysis in only five minutes and requires only a small amount of blood taken from the fingertip. We found out the ferritin amount for 54 different people. For four of those people, the amount was very high.
Girl power in the lab...
After all of these warnings, we made it our goal to make this illness known to doctors as well as everyone else. As our tests show, hemochromatosis is a very widespread hereditary disease, but recognizing it early can alleviate costs and a lot of pain and suffering. In order to spread the word, we organized a press release to over 50 different newspapers. On the next Student Information Day, we want to inform interested visitors about the disease and provide free screenings to check ferritin levels for those who are interested.