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Iron metabolism and genetics
Spoken text of the video
Section 1: Intro
Chapter 59, Iron metabolism and genetics. This is a specific training for the Iron Sensor, which is for the disease called hemochromatosis. This is actually one of my favorites with preventive genetic testing. I will explain to you why in a minute. You will find the Iron Sensor down here. As I said, it is for hemochromatosis, which is an Iron overload disorder. It is kind the opposite of iron deficiency which some girls frequently suffer from. It is just too much iron being stored in the body. It is used for prevention. It is not really helpful for early diagnosis or treatment. So, it is really for healthy people to prevent the disease from happening because prevention is extremely successful in this case. Once you already have it, there is no additional benefit you can get from this test. So, we do not recommend it for people who have the disease but only to people who want to stay healthy and have not developed it yet.
Section 2: The disease in men
Alright, here I need to differentiate between men and women. Let us first look at the disease for men. This is how it happens in hospitals today. It is a very slow disease. You have a genetic variation that causes your body to absorb too much iron from food. Naturally, iron cannot be removed from the body. So, what happens with these genetic variations is that over the years the amount of iron increases and increases. So, the blood starts to tear itself, the tissues and the organs and starts to damage the body. It is kind of like an iron intoxication. It begins with joint pain. The susceptibility to infections for the immune system gets stronger. You develop diabetes. It can go as far as cirrhosis of the liver, complete liver damage and in the end it is fatal.
Doctors who know about this disease would then at some point do a genetic test to find out whether these elevated levels of iron that we have seen have to do with eating too much iron, alcoholism which is also a cause, or with hemochromatosis itself. Once the genetic test is done, it confirms the disease. However, 76 % of all cases are misdiagnosed. They recognize it is diabetes, they treat it and actually the cause of diabetes becomes worse and worse. It is a big problem which is misdiagnosed. It is not so easy to diagnose. This doctor who knows about genetics does the genetic test, collects information and begins his treatment. This latter is the blood letting therapy.
It is not just something from the middle ages. It still has some validity. Blood letting is the following: you take half a liter of blood from your body. Blood contains hemoglobin, which is the red molecules that carry oxygen through your body. Hemoglobin needs iron to be formed. So, when you remove half a liter of blood, the body begins to produce new blood. This would use up some of the iron. If you do that every two weeks, you can rapidly reduce the amount of iron in the body. Then, you continue doing this for the rest of your life but in longer periods. So, the amount decreases and then you can keep it in the normal range by doing a regular blood letting therapy. The problem is that the disease that has already developed will remain. So, cirrhosis of the liver, diabetes and so on will remain as well. So, what this genetic test really does in this way, when you first develop the disease and you use it for diagnosis, is damage control.
Section 3: Preventive genetic testing
Now, the concept of preventive genetic testing is the following. This is what we are doing. It is exactly the same genetic test that hospitals do to diagnose the disease. However, you can do it before it is even possible to recognize that there are elevated iron levels in blood. So, you do it at a preventive stage and you find out you have the genetic variations for this disease. That is the beauty of it; to do specific prevention. This is not about no smoking and eating healthy, like what everybody knows they should do, rather this specific prevention is 4 to 6 blood donations per year. It is the same as blood letting therapy, but it removes blood from your body, produces new blood and uses up iron. Through this, which is the most important part, you do help of course people to stay healthy. So, using the exact same genetic test, identifying exactly the same genetic variations, you can remain healthy rather than doing damage control.
Section 4: The disease in women
In women, it is different because they might have the same genetic variations, but they have a long time of menstruation. Menstruation is like blood letting therapy. They use a lot of blood. That is why some women even have iron deficiency. Before menopause, they usually do not have elevated iron levels. Only when they enter menopause, then these disease starts to develop because they lose the protective effect of menstruation. So, it is less common in women. It happens to develop later in life for women and it is more critical for men.
Section 5: The genes
Now, let us look at the gene. The gene that is responsible for this type of hemochromatosis is the HFE gene. The most severe mutation is the C282Y mutation. There are two others, the H63D and S65C mutations. These three are the relevant ones. They are quite common and they cause a huge proportion of all cases. Now, every person has two copies of this gene. One from his father and one from his mother. In case you want to know more about this concept, check out the training for how genes are inherited. Now, a person has two of these genes. It is possible that he might just have one copy of this mutation on this gene and the same mutation on the other gene. This is what we would call homozygous mutant.
Again, check out the training for general genetics and the training for simple disease risk statistics. A homozygous mutant means the same mutation on both genes. This very combination is responsible for most of the cases of hemochromatosis, the most severe type. Without treatment, you have approximately 50 % probability of developing the disease in men. It is likely less in women. Half of the people who have this will develop hemochromatosis. Around 1 in 200 has this genetic variation. If only one of the two genes has this mutation, it is called heterozygous. It is an almost completely recessive disorder. Again, if you do not know the word, please do check the training for simple disease risk statistics. So, one of the two genes is broken, so to speak. It does do its function. The other one is working normally. This does not usually cause the disease.
Around one in 10 people will have slightly elevated iron levels, which are already above the normal range, but usually not in a level where it becomes a disease. They are heterozygous and not increased risk. The same goes here. It also has a heterozygous for a different mutation. That is a heterozygous for another mutation. Then, there are the so called compound heterozygous. They are kind of like the homozygous mutants but they are two different mutations. They have one mutation here and one mutation here. Both genes are broken. They do not do their function. Again, you have a high risk of developing the disease. So, it might be two types with the same mutation or two different mutations that are causing the disease risk. If you just have one mutation, you have a low risk for the disease. This here is the science behind it.
Again, if you do not know what this means, do watch the training for the simple disease risk statistics. 91 % have no increased risk of hemochromatosis because for this mutation they have the wild type genotype. They do not have this mutation. 8 % have one mutation and 1 % have two mutations. It is slightly than 1 % actually. This is the next mutation. 64 % do not have it, 35 % have one and 1 % have two. This is the last mutation. 99 % do not have it either.
Section 6: Prevention
As I said, you will get this sheet of paper that will explain the prevention. It might be either they do not have to worry or increased risk or it might be they regularly measure iron levels which the customer would ask you about. Here, they should donate blood five to six times per year to keep it in the normal range. This blood is completely fine for people not suffering from hemochromatosis. There is no danger about it. They should avoid or reduce the amount of alcohol because alcohol increases the amount of iron and they should not take dietary supplements that contain a lot of iron.
One could also counsel them not to eat too much red meat because it contains a lot of iron. They can also be compensated with more blood donations. So, as long as iron levels are in the normal range, I would not say that they should definitely avoid red meat. This prevention is extremely effective. If they really have an increased risk and they follow these guidelines, the disease risk is very very low.
This is the end of chapter 59, about iron metabolism and genetics, as a specific training for the Iron Sensor.