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The value that shows the illness years earlier is the transferrin saturation — and anyone found before the liver scars lives on normally.
Also known as: hemochromatosis · iron overload
Open in the tool — with search and all the links →This compilation is for information and replaces neither medical diagnosis nor treatment. If you have symptoms, see a doctor.
In haemochromatosis the gut takes up more iron than the body needs, permanently. Since there is no active way to get rid of iron, it is laid down over decades — in liver, pancreas, heart, joints and hormone glands. The inherited form is the commonest congenital metabolic disease in northern Europe and is nonetheless often recognised late, because the early signs are unspecific: lasting tiredness, joint pain, fading desire, raised liver values with no explanation. One detail helps — aching knuckles of the index and middle finger, so that a firm handshake hurts. The classic late triad of bronze skin, diabetes and liver damage is nowadays the exception and at the same time what one wants to prevent. It is found through two simple blood values, of which the decisive one is usually not ordered: the transferrin saturation. It rises years before the ferritin does. Confirmation is genetic. Treatment is simply taking blood off at intervals, and that is the actual point: anyone found before the liver scars has a normal life expectancy. Which is why siblings and children belong tested once too.
It is usually not in the standard panel. Together with the ferritin it is the entire screening test — two values from a single blood draw.
Anyone with the diagnosis can spare their family a great deal. A single test per person is enough, and whoever is negative stays so for life.
The treatment is regular removal of blood, because that is the only way to get rid of iron. A strict diet by contrast achieves little — cutting out meat entirely is not necessary.
Vitamin C markedly raises iron uptake and at the same time makes stored iron more reactive. Fruit is no problem; high-dose supplements belong discussed — as does every iron supplement and every multivitamin containing iron.
Iron and alcohol damage the liver in the same place and clearly reinforce one another. This is where holding back pays off most.
The pancreas is one of the first organs to store iron. An HbA1c once a year therefore belongs to the follow-up.
Bloodletting removes iron with the blood — that is the actual treatment, and it works: weekly at first until ferritin is down, then two to four times a year for life. What recedes: tiredness, liver values and partly fibrosis. What stays: joint damage, cirrhosis and diabetes if they were already there. So the timing of the diagnosis matters more than the treatment itself.
About one in two to three hundred people of northern European origin carries the change in double; only some of them develop iron overload, women later than men, because periods give iron away. A ferritin above 300 in men and 200 in women together with a transferrin saturation above 45 per cent leads to further investigation. One bloodletting removes about 200 to 250 milligrams of iron — with an overload of several grams, emptying takes one to two years.
Pain in the knuckles of index and middle finger is the best known early sign and is almost always filed away as beginning arthritis.
The commonest first sign of all — and the least specific. It is then worth measuring the two iron values once.
An even darkening without sun, often first on the face and forearms. This is a late sign and has become rare.
Iron is also laid down in the pituitary. Fading desire, absent periods or a low testosterone can be the first consequences.
The inherited form follows a pattern in which siblings carry the same risk. A cirrhosis without alcohol among relatives is a hint to take seriously.
The early and decisive value. It rises long before iron visibly accumulates — and it is the one to ask for explicitly, because it rarely comes along by itself.
Shows the store, but also rises with any inflammation, with alcohol and with fatty liver. A high ferritin alone is therefore not yet haemochromatosis.
Mildly raised values with no explanation are for many the first prompt. They do not belong watched for years but clarified once, properly.
Iron in the pancreas damages the insulin cells. A newly appearing diabetes together with joint pain is one of the typical combinations.
The one supplement that is out of the question here — including inside a multivitamin. In this condition the gut absorbs too much iron, and the excess deposits in liver, heart and pancreas.
The second point often overlooked: vitamin C markedly increases iron uptake from food and releases stored iron. Large amounts are not harmless here — the intake from food is enough.
The other way round: the tannins in tea and coffee inhibit iron uptake from food. Drunk with the meal that is an advantage here for once — as a treatment it does not replace bloodletting.
Iron deposits in the pancreas and destroys the insulin-making cells — hence the old name “bronze diabetes”. Diabetes together with darker skin and joint pain is the pattern that leads here.
Iron also deposits in the pituitary. Loss of libido, erectile difficulties and cycle disturbances are therefore among the early signs — years before the liver stands out.
For the same reason an underactive thyroid can arise. With known haemochromatosis the hormone axes therefore belong checked regularly, not only ferritin and liver values.
Here the other way round: there is too much iron, not too little. Iron preparations and high-dose vitamin C — which increases iron uptake — are to be avoided. Treatment is by bloodletting; coffee and black tea with meals lower uptake somewhat.