Hemochromatosis Diagnosis

When considering a hemochromatosis diagnosis, a doctor often begins by performing a physical exam and considering a patient's symptoms. Additional tests may be ordered to help confirm the diagnosis or rule out other conditions. Blood tests used when diagnosing hemochromatosis can show if too much iron is being stored in the body. A liver biopsy will also show a buildup of iron and any associated damage.

Hemochromatosis Disease

Hemochromatosis Diagnosis: An Introduction

In order to make a hemochromatosis diagnosis, the doctor will likely ask a number of questions about your medical history, perform a physical examination, and order routine blood tests to help rule out other conditions that could be causing the symptoms.

How Blood Tests Help in Diagnosing Hemochromatosis

Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test determines how much iron is bound to 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 either of these tests shows higher-than-normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will help confirm the hemochromatosis diagnosis. (If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup, and the doctor will look for other causes.)

How a Liver Biopsy Is Used When Diagnosing Hemochromatosis

A liver biopsy, in which a tiny piece of liver tissue is removed and examined under a microscope, may be needed to confirm a hemochromatosis diagnosis. It will show how much iron has accumulated in the liver and whether the liver is damaged as a result.