Diagnosis
Hemochromatosis is a nefariously difficult condition to diagnose because its earliest symptoms mimic so many other diseases. Stiff joints and fatigue are a couple of the symptoms that commonly occur in the earliest stages of the condition, but they can be the result of so many other diseases. There are a couple of tests which can detect iron overload, and these include the serum transferrin saturation and serum ferritin. The first test measures the amount of iron that’s bond to a protein that carries iron in the blood. The values that are greater than 45% are too much. A serum ferritin test, on the other hand, measures the amount of iron stored in your liver directly. If the results of the first test are too high, then the doctor will run a serum ferritin test. There is additional testing that some doctors may proscribe including testing for gene mutations, and this will require taking a sample of your DNA for mutations in the HFA gene. Genetic testing needs to be carefully mulled over with your doctor before having it done. A good genetic counselor can advise you. You can also remove a sample of liver tissue for testing. He will use a thin needle to remove a sample of liver tissue. This tissue will then be sent to a laboratory for testing of the presence of iron as well as evidence of liver damage, scarring, and cirrhosis. The aforementioned conditions commonly co-occur with hemochromatosis. There are certain risks with a biopsy like this that include bruising, bleeding, and resultant infection.
Some doctors may request a blood test for hemochromatosis even if you have no symptoms. Some people have so many risk factors that they are likely to get it so doctors request a gamut of tests to make sure you can spot it early. Talk to your doctor about potential risk factors to decide if you want to undergo the testing.
There are a set of doctors you can go to help you diagnose and treat the condition like a hematologist, cardiologist, endocrinologist, hepatologist, gastroenterologist, and rheumatologist. A doctor will also check for common symptoms with the naked eye like irregular heartbeats, arthritis, abnormal skin color, and an enlarged liver. Since the amount of iron in your blood may be normal, even though you have elevated levels in your body, there are specialized tests that have to be performed.