HC is the most widespread hereditary illness in Europe (about 4-9% of the population; the ratio of the apparently ill to the healthy = 1:500 to 1:4,000. It is less common in Southern Europe than in Northern Europe).

Hemochromatosis in Europe

With this illness, too much iron is taken in by the small intestine. The level of iron is over the recommended healthy iron levels. That means that, when the body needs more or less, it takes more or less as it sees fit, but it can no longer decide when too much is too much.

There must be order!

In 1996, the hemochromatosis gene (HFE) found on the sixth chromosome was discovered as the main cause. There are other types of hemochromatosis, but they are extremely rare. Hemochromatosis is an autosomal-recessive hereditary illness. That means that the illness only occurs when the homozygote mutation is present. As long as only one gene is mutated, one is only a carrier. However, it is possible to pass the illness on. If the partner of a carrier is also a carrier, then there is a 25% chance that their children could have the homozygote mutation and become ill.

For 80-100% of the mutations, there are two common types. Of those two types, HFE accounts for most of the cases of HC.

The pricking isn`t so bad when done so gently.

This gene is responsible for the production of a protein, which regulates the amount of iron being taken in and stored. When a mutation exists on this gene, then the amount of iron taken in cannot be controlled and can cause the amount of iron in the body to climb from a normal 3-5 g up to as high as 80g. These two mutations are the main elicitors: The more frequently occurring C282Y-Mutation and the H63D-Mutation. There are 16 other types of mutations, but they are extremely rare.

The excess iron is stored in the liver, skin, joints, and the pancreas. In the liver, the excess iron can lead to cirrhosis of the liver or, in worse cases, liver cancer. Storage of excess iron in the pancreas can give rise to diabetes mellitus (sugar-release through urine). With this illness, the skin takes on a darker pigment; thus, it is sometimes referred to as “bronze diabetes.”

The first symptoms, such as fatigue, depression, stomachache and impotence appear in men between 20 and 40 years of age. Due to the amounts of iron lost through the blood during menstruation, symptoms of HC typically appear in women after menopause.

In diagnosing HC, two things in the blood are measured. The first is the concentration of the iron-storing protein ferritin in blood serum. With HC, the amount of ferritin is high. The amount of ferritin can also be higher than normal if there is an infection in the body.

The second thing to be tested is the saturation of the iron-transporting protein transferrin. In patients with hemochromatosis, the percentage of transferrin is over 45%. If both of these are found to be higher than normal, then a gene test is done. This test checks to see if one of the described mutations is present on the HFE gene. 86% of people who are found to have one of these mutations on the HFE gene actually have hemochromatosis.

For those who are found not to have the mutation but still show high amounts of ferritin or transferrin, a biopsy of the liver is run, which can help determine if there are special types of HC present.

While HC cannot be cured, the ill effects of it can be lessened through regular bloodletting. The iron contained in the blood is taken out, but the remaining iron that is stored in the blood will be regenerated. The frequency of bloodletting varies between 4 and 12 times a year, depending on how much and how fast iron is stored. The longer the illness goes unnoticed, the more often the patient will need bloodletting therapy in the beginning in order to rid the organs of the excess iron. Other illnesses brought on by the high amounts of iron may also get better over time, though they cannot be completely cured.

Disinfect – Prick – Take blood

That is why it is important to recognize hemochromatosis early, in order to avoid such problems. If found early, a person suffering from HC has a normal life expectancy and can live a normal life.

An awesome machine with great effect

In Austria, blood from HC Patients is not allowed to be used as blood for donation because, technically speaking, the blood of a sick person cannot be used. In principal, this makes sense; however, it could be valuable for patients who suffer from chronic iron deficiency.