How Is Hemochromatosis Diagnosed?
Hemochromatosis is diagnosed based on your medical
and family history, a physical exam, and diagnostic tests and procedures. The
disease is sometimes found during the diagnosis of other diseases or conditions
such as arthritis, liver disease, diabetes, heart disease, and impotence.
Specialists Involved
In addition to family doctors or internal medicine
specialists, other kinds of doctors may be involved in diagnosing and treating
hemochromatosis, including:
- A cardiologist (heart specialist)
- An endocrinologist (gland system specialist)
- A hepatologist (liver specialist)
- A gastroenterologist (digestive tract
specialist)
- A hematologist (blood disease specialist)
- A rheumatologist (specialist in diseases of the
joints and tissues)
Medical and Family History
Your doctor may ask questions to learn more about
your past medical history, current symptoms, and family medical history. Your
doctor may ask questions about:
- Current symptoms, including when they started and
how severe they are
- Possible causes of secondary hemochromatosis,
such as taking too much iron (pills or injections) or vitamin C
- Whether other members of your family have
hemochromatosis
- Whether other members of your family have a
history of other medical problems or diseases related to hemochromatosis
Physical Exam
During the physical exam, your doctor will listen to
your heart for abnormal rhythms and check for arthritis, abnormal skin color,
and an enlarged liver.
Diagnostic Tests and Procedures
Based on the results of your medical history and
physical exam, your doctor may order one or several tests to diagnose
hemochromatosis.
Blood Tests
Blood tests are used to find out how much iron is in
the body. But blood tests alone are not enough to diagnose hemochromatosis.
Types of blood tests that may be used include:
- Transferrin saturation (TS). A high TS level in
your blood may indicate that you have hemochromatosis.
- Serum ferritin level. The serum ferritin level
may be tested if the TS level is high. A high serum ferritin level may mean
that iron is building up in the organs of the body. If there is iron buildup in
your organs, you may have hemochromatosis.
- Serum iron level. This test checks the level of
iron in your blood. The iron level in your blood can be normal even if you have
hemochromatosis.
- Liver function tests. These blood tests may be
done to check the level of damage to your liver. Liver damage may indicate that
you have hemochromatosis. If you have been diagnosed with hemochromatosis,
these blood tests may show how far the disease has advanced.
Quantitative Phlebotomy (Blood Removal)
This test may be done to check a diagnosis of
hemochromatosis. A phlebotomy (fle-BOT-o-me) is a process similar to giving
blood. You will usually have a series of several phlebotomies. Your blood is
tested to show whether blood removal is helping to lower iron levels.
Liver Biopsy
A liver biopsy can show how much iron is in your
liver and can diagnose liver damage (fibrosis,
cirrhosis, and cancer). During a liver biopsy, your doctor
numbs the area and then removes a small sample of liver tissue using a needle.
The tissue is then examined under a microscope. Liver biopsies are used less
often in diagnosis than they used to be.
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a test that can show the
amount of iron in your liver. MRI uses magnetic fields to show images of organs
and structures inside the body. It provides more detail than an x ray for some
kinds of problems.
Superconducting Quantum Interference Device
Superconducting quantum interference device (SQuID),
like MRI, measures the amount of iron in your liver. It is available at only a
few medical centers.
Genetic Testing
Genetic testing can be done to show whether you have
zero, one, or two copies of the abnormal HFE gene. The test is accurate in more
than 8 out of 10 cases. It can identify people who have two copies of the
abnormal gene, but it cannot predict which of these people will go on to
develop iron overload disease. The most common HFE mutation is called C282Y,
and a less frequent one is H63D. The test may overlook people who have
hemochromatosis caused by other types of genes.
Genetic testing can be carried out in two ways. A
cheek test is when a cotton swab is used to collect cells from the inside of
the mouth. A whole blood test is when a sample of blood is drawn from a vein in
the arm to be tested.
Genetic testing may be done with genetic counseling
for couples planning to have a family when one or both parents have
hemochromatosis or have a family history of the disease. The purpose is to
show:
- If one or both parent(s) carry the abnormal HFE
gene
- The likelihood of passing the HFE genes to their
children
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