Hemochromatosis Diagnosis And Treatment

What is hemochromatosis ?

Hemochromatosis Diagnosis And Treatment - Hemochromatosis, pigment cirrhosis is a metabolic disease in which the absorption of iron in the intestine cannot properly be regulated, which sometimes leads to iron overload in organs which after long time (sometimes severe) symptoms can cause.


In 1865, the Hereditary hemochromatosis was first described as a triad of glycosuria, cirrhosis and hyperpigmentation. It was Daniel von Recklinghausen to use the term hemochromatosis, after he remarked that it was an iron overload disease.

The origin of the unique point mutation of the HFE protein that causes hemochromatosis, judging from genetic research is likely to be found some 60 to 70 generations ago with the Celts or the Vikings.


The point mutation of an HLA-linked gene, it causes a deviation in the MHCI-protein. This protein forms a dimer with the β2-microglobulin at the height of the basolateral side of the enterocyte (intestinal cell) and at the level of the macrophages. In the peripheral cells constituting the high-affinity complex with the transferrin-receptor.

How this leads to a 2 to 3 fold increase in iron absorption from the gut is still unknown.


Due to the increased absorption of iron to the blood becomes saturated with iron. The resulting excess of iron can not be discharged by the body in the urine, and is then stored in a number of organs, for example the liver, the pancreas, joints in the hands and feet, eyes, etc. An MRI scan can sometimes make it clear which organs in the patient contain the excess of iron.

The iron accumulation in the cells, resulting in damage in that the production of the fat degrading certain molecules called free radicals, strengthened.
  • In the pancreas causes the destruction of the β-cells, with diabetes mellitus and thus glucosuria (sugar in the urine), the effect of
  • In the liver cirrhosis causes the
  • In the skin, it provides hyperpigmentation
  • In the heart muscle causing heart failure
  • In the pituitary gland gives rise to starting hormone affecting potency: erectile dysfunction
  • In the joints causes arthritis.
Mostly clear symptoms continue into later life. Not all patients get all symptoms.

 pigment cirrhosis is a metabolic disease in which the absorption of iron in the intestine Hemochromatosis Diagnosis and Treatment

Hemochromatosis Diagnosis and Treatment

Because the disease often begins with vague symptoms such as fatigue, it can sometimes take a long time before the diagnosis is considered by a doctor or specialist. The diagnosis can be made with certainty by taking a liver biopsy or the point mutation by DNA analysis to detect. The diagnosis can be made by initially transferrin saturation percentage (TS%) and measuring ferritin in the blood - as both are unusually high, this is a strong indication.

For treatment can both cause the body iron lost through bleeding. On the other hand, one can reduce the iron intake by eating red meat or organs and checked to make the vitamin C intake. Iron is present in one form or another in almost all foods so that there is no real diet is available. Regulated bloodletting (phlebotomy) is usually the most common method to reduce the iron content and keeping fit. Aspirin also increases the absorption of iron. If diagnosed in time and started the treatment, symptoms often remain out.


Currently, one in ten white Americans support this point mutation. It is the most common mono-allelic genetic disease transmitted by the white race.

Although the mutated gene prevents fairly common, usually it does not cause disease in heterozygous and homozygous even if it occurs gives women but to a lesser extent, in response to disease because women also lose some iron every month through menstrual blood.

The main risk group are homozygous men, especially when they have excess iron in their diet and are present also contributory factors, such as excessive alcohol consumption. If hemochromatosis is noticed in time, preferably before symptoms occur, treatment is often very possible.

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