Hemochromatosis: causes, symptoms and tests

Hemochromatosis is a genetic autosomal recessive disease characterized by increased transferrin saturation and progressive iron overload. It occurs particularly in the liver, but not only there, in the absence of anemia or reticulocytosis. It is also called iron overload disease. In essence, iron that the body produces in excess builds up and attacks the organs. The excess iron ‘strikes’ the heart, the liver, the pancreas, the joints, the pituitary gland and other organs, gradually damaging them over time. It is a deficiency of hepcidin, a liver hormone that regulates iron.

Causes of hemochromatosis

There are two main causes of hemochromatosis: heredity and a lack of hepcidin. The main cause of the iron buildup, in fact, is the insufficient production of the protein made by the liver that regulates iron absorption in the small intestine.

The symptoms

The symptoms of hemochromatosis can vary depending on the case and its severity. They include:

• Aching joints
• Changes in skin color
• Damage to internal organs
• Weakness
• Abdominal pain
• Fatigue

Diagnosis

The diagnosis of hemochromatosis is usually confirmed by blood tests that measure iron levels and transferrin saturation. The tests can be done at the laboratories of the Nefrocenter group and at the Rome American Hospital. Molecular genetics can be used to confirm the presence of the genes associated with the disease and to find out whether there is a hereditary factor.

Recommended treatments

The main treatment for hemochromatosis is the periodic removal of blood, known as therapeutic phlebotomy. This procedure helps reduce the high levels of iron in the body. Other treatments may include taking specific medications to reduce iron absorption.

How common hemochromatosis is and the environmental factor

Males are affected 4 times more often than females. The environmental factor plays a large part. In Italy, 1 person in 500 is affected in the North. In the South, by contrast, the statistic is one patient per 2,000-3,000 inhabitants. Two percent of Italians are carriers of HFE hemochromatosis because they have one faulty gene, namely the C282Y mutation. Only if both parents are affected do they pass the disease on to their child, since it is an autosomal recessive disease. In the countries of Northern Europe, where it is more widespread, the disease is also nicknamed the Celtic curse. Among those who had this disease was Ludwig van Beethoven: the famous composer may have died of hemochromatosis made worse by alcohol abuse. Traces of the disease, which emerged in a recent study, have been found in both a Neolithic woman (as long as 5,000 years ago) and a man who lived 1,000 years later in the Bronze Age.

An ancient disease with recent guidelines

The hemochromatosis guidelines had remained unchanged since 2010. They were then updated in 2022, which also provided a scientific definition. Today the disease has its own definition: a genetic disease characterized by increased transferrin saturation and progressive iron overload (mainly in the liver), in the absence of anemia or reticulocytosis.