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How is hemochromatosis diagnosed?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

– Iron is a mineral found in many foods.
– Too much iron is toxic to your body.
– It can poison your organs and cause organ failure.
– In hemochromatosis, iron can build up in most of your body’s organs.
– It builds especially in the liver, heart, and pancreas.
– Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
– Too much iron in the pancreas can lead to diabetes.
– If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
– an enlarged liver,
– liver failure,
– liver cancer,
– cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Signs and Symptoms of Hemochromatosis:
– Joint pain
– Fatigue
– Lack of energy
– Abdominal pain
– Loss of sex drive
– Heart problems
– Arthritis
– Amenorrhea
– Early menopause
– Loss of sex drive
– Impotence
– Shortness of breath
– Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.
– Damage to the pancreas, possibly causing diabetes
– Chronic (ongoing) abdominal pain

Diagnosis of Hemochromatosis
– Medical history
– Perform a physical examination
– Order routine blood tests

How Blood Tests Help in Diagnosing Hemochromatosis ?
– Blood tests can determine if the amount of iron stored in the body is too high.
– The transferrin saturation test determines how much iron is bound to the protein.
– This is the protein that carries iron in the blood.
– The total iron binding capacity (TIBC) test measures how well your blood can transport iron.
– The serum ferritin test shows the level of iron in the liver.
– If any of these tests shows higher-than-normal levels of iron in the body, healthcare providers can order a special blood test to detect the HFE mutation.
– This test will help confirm the diagnosis of hemochromatosis.
– If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup.

Serum transferrin saturation:
– This test 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.

Serum ferritin:
– This test measures the amount of iron stored in your liver.
– If the results of your serum transferrin saturation test are higher than normal then the doctor will check your serum ferritin.

Using a Liver Biopsy to Confirm the Diagnosis
– A liver biopsy is a procedure where a tiny piece of liver tissue is removed and examined under a microscope.
– This may be needed to confirm a hemochromatosis diagnosis.
– It will show how much iron has accumulated in the liver.
– It will show whether the liver is damaged as a result.

Additional testing

Testing for gene mutations:
– Your doctor can test a sample of your DNA for mutations in the HFE gene.
– This test can help confirm a diagnosis of hereditary hemochromatosis.

Removing a sample of liver tissue for testing:
– During a liver biopsy, your doctor removes a sample of tissue from your liver, using a thin needle.
– The sample is sent to a laboratory where it’s checked for the presence of iron and also for evidence of liver damage, especially scarring or cirrhosis.
– Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis:
– Doctor may recommend a blood test to determine if you have hemochromatosis even with no linked symptoms.
– Patients undergo screening tests to determine whether they have the condition before complications can occur.

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