What is an iron overload evaluation?
An iron overload evaluation is a group of tests that checks how much iron is in the body.
The body needs iron to stay healthy. Iron helps make red blood cells and supports the body’s daily activities.
Too much iron can cause iron overload, which can damage vital organs such as the liver, heart, and pancreas. It is important to diagnose iron overload before organ damage happens. Without treatment, iron overload can be life-threatening.
What is hemochromatosis?
Hemochromatosis is a condition that causes the body to absorb or store too much iron. When this happens, iron builds up in the liver, heart, and pancreas.
There are 2 types of hemochromatosis. One is inherited (genetic), and the other is caused by another medical condition or treatment.
- Primary hemochromatosis: This type is caused by gene changes that cause the body to absorb too much iron from the diet. This is usually due to a change in the HFE gene (HFE mutation). These changes are inherited, which means they are passed down through families. Primary hemochromatosis is also called hereditary or inherited hemochromatosis.
- Secondary hemochromatosis: This type is caused by other conditions or treatments that cause iron to build up in the body. Common causes include repeated blood transfusions, high iron intake from diet or supplements, and disorders such as anemia, thalassemia, and liver disease. Secondary hemochromatosis is also called secondary iron overload or hemosiderosis.
How an iron overload evaluation works
There is no single test for iron overload, so the care team uses several tests. Testing is based on the type of hemochromatosis your child has and their risk of iron overload.
Your child may have blood tests, imaging tests, genetic testing, a liver biopsy, or other tests. The care team looks at all the test results to see if your child has iron overload.
If your child has had these tests before, the care team will compare the new results to the old ones. This information helps the care team choose the best treatment plan.
What to expect during an iron overload evaluation
Follow your care team’s instructions for how to prepare for the tests.
Your care team will review any medicines and supplements your child takes. Some medicines can affect iron levels.
If your child takes deferoxamine (Desferal®) or deferasirox to help get rid of iron, the care team will check for side effects. Keep giving your child their medicines unless your care team tells you to stop.
In rare cases, your child may need to fast (not eat or drink anything except water) before some tests. Fasting helps make sure that lab test results are correct. Be sure to follow your care team’s instructions.
During an iron overload evaluation, the care team will:
- Ask about your child’s health history
- Do a physical exam
- Check vital signs, weight, and height
They may also do:
- Lab tests of blood and urine (pee)
- Imaging tests
- Other tests
Not every child needs every test. Your care team will decide which ones your child needs.
Some results are ready the same day. Others may take a few days or weeks. Your care team will discuss results with you.
Lab tests for iron overload
Several lab tests can be used to check for iron overload. Some tests are done every time. Others may be done once a year. Your care team will order the tests that are appropriate for your child’s needs.
Iron overload lab tests are usually blood tests. Your child will be asked for a small amount (sample) of blood. In some cases, your child may be asked to give a urine (pee) sample.
- Complete blood count (CBC): This test looks at your child’s blood cells. It shows the number, size, and types of cells. It also shows hemoglobin levels.
- Iron studies: These tests include serum ferritin and transferrin saturation (TSAT). They show how much iron is in your child’s body.
- Chemistry panel: This test measures chemicals in the blood, such as sodium, potassium, and magnesium. It may also include tests that show how well the liver is working.
- Glucose and insulin test: Too much iron can lead to diabetes. This test shows how well your child’s body uses sugar and checks for diabetes.
- Coagulation (blood clotting) screen: This test shows how well your child’s blood clots. The liver makes proteins that help blood clot.
- Hormone tests such as free T4, TSH, PTH, FSH, and others: Too much iron can affect how your child grows and develops. These tests help the care team check your child’s growth and development.
- Hepatitis panel / HIV screen: These tests check for infections that can affect the liver and overall health.
- Alpha fetoprotein: If your child has hepatitis C, this test may be done. It can be an early warning sign of liver cancer.
- Hepatitis C PCR: If your child has hepatitis C, this test measures how much of the virus is in your child’s body. The care team tracks how this level changes over time.
Imaging tests for iron overload
Imaging tests can provide information about iron levels in the body and their effects on organs. These tests are generally done once a year. Tests may include some of these imaging tests:
- MRI: This is one of the main tests used to check iron levels in the body, especially in the heart and liver.
- Bone density scan: A DEXA or DXA scan looks at how strong and thick your child’s bones are. Too much iron can make bones thin and more likely to break.
- Echocardiogram (echo): This test is an ultrasound of the heart. It shows the size of the heart and how well it is working.
- EKG: An electrocardiogram (EKG) checks the heart’s rhythm and electrical activity. Too much iron can cause abnormal heart rhythms and other changes.
- Ultrasound of the abdomen (belly): If your child has hepatitis, they may have this test to look at the size and shape of organs in the belly, especially the liver.
- X-ray (chest and bone age): Too much iron can affect growth. X-rays of the bones can help your care team see if they are growing as expected for your child’s age. A chest X-ray can help evaluate the heart and lungs.
Other tests for iron overload
Iron overload specialty visits
An iron overload evaluation may also include these appointments:
- Audiology visit (hearing test): This visit checks your child’s hearing. Deferoxamine or deferasirox can affect hearing, especially with long-term use. Iron overload can also cause hearing problems.
- Endocrine specialist visit: An endocrine doctor focuses on hormones and the endocrine system. They will check your child’s height and weight and ask about growth and development. They will look at blood test results to see if hormone levels are normal. Too much iron can affect growth, delay puberty, or cause problems with blood sugar (diabetes).
- Eye clinic visit: An eye doctor will check your child’s vision and eye health. Deferoxamine or deferasirox may cause vision changes over time.
After the evaluation, your care team will review your child’s test results with you. If iron levels are too high, the provider may recommend treatments to lower them.
Treatments for iron overload
Common treatments for iron overload include:
- Therapeutic phlebotomy: This treatment removes blood from your child’s body to lower iron levels. It is like donating blood. This treatment is common for iron overload.
- Chelation therapy: This treatment uses medicine such as deferoxamine or deferasirox. The medicine attaches to the extra iron in the body so it can be removed from the body through urine (pee) or stool (poop).
- Changes in diet: Your care team may suggest changes to your child’s diet. This may include limiting foods high in iron. Your care team may also talk with you about vitamin C, which can help the body absorb more iron. A dietitian can help you plan these changes.
Your care team will let you know how often your child needs follow-up tests to check their iron levels. Follow the treatment plan and go to all follow-up visits.
Questions to ask your care team
