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How Can Hemochromatosis Be Diagnosed?
We learned that a few in my generation have hemachromatosis or were genetically confirmed as a carrier on my maternal side. My younger brother, previously diagnosed as a carrier only, later developed full-blown hemachromatosis in his early 50 s. He is 8 years my junior. I am strongly exhibiting virtually all identified symptoms and want to determine my status. What test or tests should I request and/or expect my primary care Doctor to perform? Thanks!
Wed, 12 Apr 2017
Hi & Welcome.
I can understand your concerns.
Hemochromatosis is a hereditary disease caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. Excess iron is stored in organs like liver, heart and pancreas which can lead to life-threatening conditions, such as liver disease, heart problems and diabetes respectively.
The two most commonly done tests to detect hemochromatosis include:
1. Serum transferrin saturation test which measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high, and
2. Serum ferritin test which measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.
Elevations in one or all of these blood tests for iron can be found in other disorders. You may need to have the tests repeated for the most accurate results.
Your PCP may suggest other tests to confirm the diagnosis and to look for other problems such as liver function tests, MRI and testing for gene mutations.
Testing your DNA for mutations in the HFE gene is recommended if you have high levels of iron in your blood.
Hope to have answered your queries.
I can understand your concerns.
Hemochromatosis is a hereditary disease caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. Excess iron is stored in organs like liver, heart and pancreas which can lead to life-threatening conditions, such as liver disease, heart problems and diabetes respectively.
The two most commonly done tests to detect hemochromatosis include:
1. Serum transferrin saturation test which measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high, and
2. Serum ferritin test which measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.
Elevations in one or all of these blood tests for iron can be found in other disorders. You may need to have the tests repeated for the most accurate results.
Your PCP may suggest other tests to confirm the diagnosis and to look for other problems such as liver function tests, MRI and testing for gene mutations.
Testing your DNA for mutations in the HFE gene is recommended if you have high levels of iron in your blood.
Hope to have answered your queries.
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