Interview: My Experience with Hemochromatosis
Contributors: Johan and Justyna
Reading Time: 3 Minutes
Johan is a 36-year-old researcher interested in biotechnology and drug development. Two years ago he discovered that he is genetically predisposed to get the symptoms of hemochromatosis caused by the C282Y mutation. He has since become a big advocate of genetic testing and aims to raise awareness of hereditary hemochromatosis since patients often go undiagnosed for a long time. However, once diagnosed, the treatment is relatively simple and many can even live symptom-free lives. As part of this venture, Johan also joined the Swedish Hemochromatosis Association. In this interview he tells us about his journey through diagnosis, treatment, and how he monitors his iron levels.
Interviewer: Could you start by telling us what hemochromatosis is?
Johan: A patient with hereditary hemochromatosis accumulates too much iron, which damages the body. The most common symptoms are extreme tiredness and joint problems, but this can vary greatly from patient to patient. Some never develop any symptoms at all.
In men, symptoms often first show up after the age of 40, when the body has accumulated iron for many years. Women who menstruate may avoid having any symptoms until after menopause.
Hemochromatosis is a genetic disease and the patient has inherited one gene from each of their parents. One in ten people have one copy of this gene while one in 200 have both copies. This makes it the most common genetic condition.
There are not only drawbacks with hemochromatosis, though. The high availability of iron gives the body the ability to produce a lot of oxygen carrying hemoglobin, and it isn’t uncommon that elite athletes in extreme cardio sports have these genes.
Interviewer: Were there any signs of hemochromatosis that you noticed?
Johan: No, I didn’t feel any symptoms. But after I had treatment I’ve come to realize that my stomach is much calmer. This can of course have other reasons, but I think it was the iron since this can also affect the digestive system.
Interviewer: How did you get diagnosed with hemochromatosis?
Johan: Since I have a huge interest in science and biotechnology, I always thought I would try a genetic test. You can also do some genealogy analysis and find out who your ancestors were and find people you are related to that live today.
Interviewer: What made you decide to run the tests?
Johan: Some of these genetic tests have been available for consumers for a long time, but more recently whole genome sequencing (WGS), which sequences all of your DNA, has come down to consumer-friendly prices. For most people this doesn’t make any difference, but for a biotech nerd like me this was important. I waited for a Black Friday offer and bought the test when the price was right.
Interviewer: What are the treatment options for people with hemochromatosis?
Johan: First of all, I will say that there are drugs, but these are very seldom prescribed due to the severe side effects. Instead, the cheap and effective treatment is to perform phlebotomies (bloodletting). Yes, this is the only condition where this medieval technique actually works!
When a patient is diagnosed, the iron concentration is often high. To lower the concentration several phlebotomies are performed with short breaks in-between. This is called the ‘intensive phase’ and the interval can last from just a few days to up to a month. When the target value has been reached, the patient enters the maintenance phase, which means that blood is taken with longer intervals in-between, most often several months. The best thing for society would be if the hemochromatosis patient could become a regular blood donor. Most symptoms should then have disappeared, but some may remain, especially joint problems.
Interviewer: Are there any complications if left untreated?
Johan: Yes. Any symptoms will remain and most likely get worse. The liver can get severely affected, but the list of symptoms is long. Ultimately, this can be a lethal disease if left untreated, but that should never happen.
Interviewer: I can see the importance of measuring your iron levels regularly to avoid iron build-up and complications. How often do you measure your iron levels?
Johan: I’m tested once a year by my attending physician. And since I’m in the maintenance phase, my ferritin level is controlled every time I donate blood, which is supposed to be about four times a year. However, I’m getting the results after I’ve given blood. It would be much better if I could have a test before I decide to donate blood, and then make a test afterwards to control the new level. On the other hand, the hemoglobin level is being tested at the blood center before the phlebotomy is performed and there is therefore no risk of becoming anemic.
Some can feel how their iron level has gone too high, and they start to get symptoms. For them it might be better to make tests to counteract the symptoms before they feel them.
Ideally I think a test every month would give me a better understanding of my values and how they are affected when I donate blood. After having gotten this understanding, every third month might be enough.
Disclaimer: Currently the test is not available for purchase in Sweden.