Hemochromatosis

Exams and Tests

A complete medical history and physical exam are usually the first steps in diagnosing hemochromatosis. Important information for your medical history includes your:

• Health conditions, including pattern of blood loss, as might happen in menstruation or with pregnancy.
• Close family members' health conditions.
• Past or current symptoms of hemochromatosis.
• Diet.
• Sexual function.
• Use of iron supplements, both over-the-counter and prescription.
• History of blood donations or transfusions.

Women may hear questions about their menstrual patterns, pregnancies, use of birth control, and symptoms of menopause.³ Women lose some iron during their monthly cycle, so it's helpful for doctors to know this information. When regular blood loss stops because of menopause, pregnancy or some birth control methods, iron can start collecting in the body's tissues if the woman has hemochromatosis.

Common blood tests to help diagnose hemochromatosis are:²

• Serum transferrin saturation.
• Ferritin level.
• Serum iron.

Other tests that may be done include:

• Blood tests to determine whether you have problems related to hemochromatosis, such as diabetes or liver disease.
• A complete blood count and blood smear, to measure hemoglobin concentrations and hematocrit levels that may suggest specific blood disorders (such as thalassemia), which could increase your risk of developing acquired hemochromatosis.
• A genetic test for hereditary hemochromatosis, which may find a defect in a gene named HFE. Many people with hereditary hemochromatosis have defects in this gene. If you find out you have this condition, your family members may want to get tested. It is best to get tested between the ages of 18 and 30 when tests can usually detect the disease before serious organ damage occurs.

Hemochromatosis is an autosomal recessive disorder that can be passed to a child from the parents. You may want to talk with a genetic counselor if your parents, brothers, sisters, and/or children have this condition.

Other tests done during the course of the disease may include:

• Liver biopsy (sample of liver tissue), to confirm that hemochromatosis is present and to help determine whether you have cirrhosis or other types of liver damage.²
• CT scan or MRI.
• Alpha-fetoprotein levels, a blood test that looks for higher levels of a protein that occurs with liver cancer.

Screening for hemochromatosis

Screening is advised for people at high risk of developing hemochromatosis. If your doctor finds that you are at high risk, diagnostic tests may reveal if you have this condition. The earlier you discover this condition and get treatment, the better chance you have of avoiding life-threatening complications.

Screening is recommended if you have:²

Symptoms such as:	No symptoms but you have:
Liver disease with no clear cause. Liver disease with known cause and abnormal serum iron test results. Type 2 diabetes, particularly with: Enlarged liver. Elevated liver enzymes. Cardiac disease. Early-onset and unexplained joint pain, heart disease, or male sexual dysfunction. Low levels of sex hormones.	A parent, brother or sister, or child with a confirmed case of hemochromatosis. Abnormal serum iron test results. Unexplained elevation of liver enzymes. Unexplained liver enlargement. A CT scan that shows thinning or weakening of the tissue of the liver. Skin that gets darker for no obvious reason.

Hemochromatosis probably is underdiagnosed because:

• Hemochromatosis takes a long time to develop.
• Symptoms of hemochromatosis are often vague.

Medical experts are undecided about whether screening for hemochromatosis in the general population is helpful. The general population is defined as people who do not have symptoms of hemochromatosis and who do not have a parent, brother, sister, or child with the disease. The reason to have general screening is to catch cases early, thus preventing liver damage and other problems.^{4, 5}

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Author:	Debby Golonka, MPH	Last Updated: April 30, 2007
Medical Review:	Anne C. Poinier, MD - Internal Medicine Brian Leber, MDCM, FRCPC - Hematology
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