Haemochromatosis Australia - Diagnosis: Tests for Haemochromatosis

Diagnosis: Tests for Haemochromatosis

Hereditary haemochromatosis is diagnosed by simple blood tests. Your doctor may order the tests if your symptoms indicate haemochromatosis is possible or if you become aware a close relative has been diagnosed with haemochromatosis.

Parents, brothers, sisters and children of people diagnosed with haemochromatosis should be tested. However it is not necessary to test children before their late teens unless symptoms develop early.

Iron Studies

These blood tests look for two indicators that signal someone may have haemochromatosis.

They measure Transferrin Saturation Transferrin is a protein that binds and transports iron in the serum.
This transportation system carries iron from the gastrointestinal tract and storage to replacing cells.
Transferrin Saturation is a measurement of the amount of iron that transferrin can bind and transport.
This measurement reflects the mobilisation of iron from storage to utilisation.
A high saturation rate, e.g.
>50% indicates a high quantity of iron is available for transport and deposition. and Serum Ferritin.Ferritin is an iron protein complex that is one of the forms in which iron is stored in the tissues.
Serum Ferritin (SF) is a measure of ferritin circulating in the body serum.
This will reflect the amount of iron stored as ferritin in all body tissues.
Therefore, it is a good indicator of the total amount of iron stored.

They are usually a fasting blood test.

Normal range for Iron studies:

Males

Serum ferritin:               20-300 μg\l
Transferrin Saturation: 10-50%


Females

Serum ferritin:               10-200 μg\l
Transferrin saturation:  10-30%


If the results of these tests are above the normal range, they are repeated. If the second test again exceeds the norm, a genetic test will check for the specific genetic markers of haemochromatosis.

Genetic Test

The genetic test will show one of the following for the mutations C282Y and H63D of the HFE gene:

  • Mutation not found
  • Heterozygous (which means one faulty gene) or
  • Homozygous (which means two faulty genes).

Haemochromatosis occurs when the genetic test result shows they are homozygous, that is they have two faulty genes.

A person who is heterozygous with one faulty gene is unlikely to experience any symptoms but is known as a "carrier" because they may pass the condition to a child.

Next, more information about the genetics of haemochromatosis and how that may affect your family. Next.