How Best to Make a Hemochromatosis Diagnosis?

There are several tests that will help your doctor make a definitive hemochromatosis diagnosis. These series of tests are to be done especially in hereditary hemochromatosis for the disease can be difficult to diagnose. The diagnostic tests are first done by taking into account your complete family history of illness, your own medical history, as well as physical examination. Your doctor will ask you several questions to see if your signs and symptoms are caused by hemochromatosis. Signs and symptoms often include:

- Joint and muscle pain

- Chronic fatigue

- Enlarged liver

- Cardiac arrhythmias

- Diabetes

What makes hemochromatosis diagnosis so difficult is that the amount of iron in your blood will be normal, but the iron in your body is in excess. The test is done by taking several samples of blood. The blood is taken from a vein from your arm. The blood is now tested for transferring saturation, serum ferritin, and liver function tests. Serum transferring saturation test is done to measure the amount of iron that is bound to a protein found in your body called transferrin. This protein is responsible for carrying iron in your blood. Values of greater than 45% are considered abnormal.

This is not a positive indication of hemochromatosis. Serum ferritin measures are now done to measure the iron content stored in the body and not in the blood. Several tests of serum ferritin are to be done for there are several forms of infection and inflammatory conditions that can result to increased levels.

These tests for hemochromatosis diagnosis are not routine examination. These tests are only done when you have a family history of hemochromatosis. Once a diagnosis has been confirmed, your doctor will now order several treatment methods to help decrease iron levels in your body. These treatment methods must be done to help prevent complications due to iron toxicity, or halt their progression if they are already present. These treatments include therapeutic phlebotomy (which is similar to donating blood), intake of iron chelating agents, as well as diet modification to help prevent increase of iron levels. Your doctor will order which therapy will be suited for you depending on your condition.