Diagnosis of hemochromatosis | Symptoms of hemochromatosis

Diagnosis of hemochromatosis

The diagnosis of hemochromatosis is mainly based on the patient’s symptoms and clinical examinations. If hemochromatosis is suspected, further measures must be taken. These consist mainly of laboratory medical examinations, which focus on certain iron values.

These values are specialized proteins that transport and store iron. In addition, the absolute amount of iron in the blood is determined, which allows an approximate estimate of how much iron is overloaded in the body. The specialized proteins in hemochromatosis diagnostics are called ferritin and transferrin.

In addition to these values, the so-called transferrin saturation is also determined. Ferritin is the storage form of iron in body tissue and is significantly increased in hemochromatosis. Transferrin is the transport protein of iron and is also elevated in hemochromatosis.

The transferrin saturation indicates how much the transport protein is overloaded with iron. At the same time, transferrin saturation is the most sensitive (most sensitive) parameter in the diagnosis of hemochromatosis, since it is least affected by external influences. Ferritin can rise to 6,000 ug/l in patients with hemochromatosis, with a standard value of 500 ug/l. More information on elevated ferritin values can be found on the following page: Ferritin value increased