Diagnosis

If hemochromatosis is symptomatically suspected, blood is taken for initial clarification and it is checked whether the transferrin saturation is above 60% and whether the serum ferritin is above 300ng/ml at the same time. Transferrin serves as an iron transporter in the blood, while ferritin takes over the function of an iron store in the body.Ferritin and ferritin value too high If both values are elevated, a genetic test is performed, since about 0.5% of the population are homozygous carriers (on both gene copies) of the plant for hemochromatosis. Every eighth to tenth northern European possesses the plant on one gene and can therefore inherit the plant.

If the genetic test is positive, a bloodletting therapy is usually performed. If the genetic test is negative, an MRI image of the liver is taken to detect iron deposits in the liver. If this is positive, a bloodletting therapy is also performed.

In addition, further organ function tests can be performed. If hemochromatosis is ultimately diagnosed, it is advisable to also carry out a genetic test on close relatives, such as siblings, in order to detect disease in them as early as possible. For the genetic test, blood is first taken with the patient’s special consent.

A so-called EDTA blood tube with at least 2ml blood is required. Every doctor can take this blood tube and send it to a laboratory that carries out the genetic test. However, the testing of relatives of a hemochromatosis patient is only permitted after a human genetic consultation.

The blood is tested in the laboratory using PCR (polymerase chain reaction) and/or RFLP (restriction fragment length polymorphism, “genetic fingerprint”). These test procedures search for genetic mutations in the affected HFE gene. 90% of patients show a C282Y mutation in both gene regions.

A result can be expected after about 2 weeks processing time. If the genetic test is performed due to suspicion of hemochromatosis, the health insurance company will cover the costs. A genetic test initiated at the patient’s request, although there are no symptoms, can only be carried out after consultation with a human geneticist and must be paid for by the patient himself.

The costs for this vary. It is best to enquire about the costs at the laboratory to which the patient’s family doctor or gastroenterologist sends the samples. To better understand the blood values in hemochromatosis, here is an explanation of the important laboratory values that are altered in this disease: Serum iron: This value describes the concentration of iron in the blood serum and is subject to strong fluctuations depending on the time of day, which is why ferritin allows a better statement about the iron balance of the patient.

However, serum iron is needed to calculate transferrin saturation (see below). Ferritin: Ferritin is also known as “storage iron” because this protein stores iron in a biological form. The level of ferritin measurable in the blood is related to the body’s iron reserves.

The following applies: high iron reserves → high ferritin, low iron reserves → low ferritin. The standard values depend on age and sex. In hemochromatosis, the ferritin level is increased because the body’s iron reserves are full or even overfilled.

In hemochromatosis, the values are above 300μg/l and can be increased to 6. 000 μg/l. Ferritin is also elevated in various inflammatory processes in the body, the diagnosis “hemochromatosis” can therefore not only be made by a too high ferritin value.

Transferrin: Transferrin is a transport protein for iron. It ensures the transport of iron between the intestine, iron stores and the places of blood production where it is needed for the production of hemoglobin, the red blood pigment. The standard value for transferrin is 200-400mg/dl.

More significant than the transferrin level is the transferrin saturation. Transferrin saturation: This value is calculated from serum iron and transferrin and describes the proportion of transferrin in the blood that is currently occupied by iron (i.e. currently transports iron from A to B within the body). In hemochromatosis this value is increased: Women have values above 45%, men above 55%.

The reason is the increased absorption of iron and thus the increased need to distribute this iron within the body. Normal transferrin saturation very probably rules out hemochromatosis.

Serum iron: This value describes the concentration of iron in the blood serum and is subject to strong fluctuations depending on the time of day, which is why ferritin provides a better indication of the patient’s iron balance.
However, serum iron is needed to calculate transferrin saturation (see below).
Ferritin: Ferritin is also called “storage iron”, because this protein stores iron in a biological form. The level of ferritin that can be measured in the blood is related to the iron reserves of the body. The following applies: high iron reserves → high ferritin, low iron reserves → low ferritin.
The standard values depend on age and sex.In hemochromatosis, the ferritin level is increased because the body’s iron reserves are full or even overfilled. In hemochromatosis the values are above 300μg/l and can be increased to 6. 000 μg/l.

Ferritin is also elevated in various inflammatory processes in the body, the diagnosis “hemochromatosis” can therefore not only be made by a too high ferritin value.
Transferrin: Transferrin is a transport protein for iron. It ensures the transport of iron between the intestine, iron stores and the places of blood production where it is needed for the production of hemoglobin, the red blood pigment. The standard value for transferrin is 200-400mg/dl.
More significant than the transferrin level is the transferrin saturation.
Transferrin saturation: This value is calculated from serum iron and transferrin and describes the proportion of transferrin in the blood that is currently occupied by iron (i.e. currently transports iron from A to B within the body). In hemochromatosis this value is increased: Women have values above 45%, men above 55%. The reason is the increased absorption of iron and thus the increased need to distribute this iron within the body. Normal transferrin saturation very probably rules out hemochromatosis.