Hemochromatosis – Diagnosis and Treatment
Diagnosis
Iron Checks Using Blood
Doctors check for hemochromatosis by testing blood. Two main blood tests help spot too much iron.
Transferrin Saturation Test: This test shows how much iron binds to transferrin, a protein that carries iron in the blood. Numbers higher than 45% suggest iron overload.
Serum Ferritin Measurement: This test measures how much iron the liver stores. High results mean the body may be storing too much iron.
Doctors recommend fasting before these blood tests. If results are unclear, doctors may repeat the tests. High iron levels can also happen with other health problems, so doctors check carefully before making a diagnosis.
| Blood Test | What It Measures | Concerning Result |
|---|---|---|
| Transferrin Saturation | Iron bound to transferrin | Over 45% |
| Serum Ferritin | Iron stored in liver | Higher than normal |
Other Steps to Confirm Diagnosis
If blood tests show too much iron, doctors use more tests.
Liver Health Checks: These tests find out if the liver has damage or shows signs of disease from iron overload.
MRI Scan: An MRI scan safely measures iron in the liver without surgery.
Genetic Analysis: A special test checks the high iron (HFE) gene, which links to hereditary hemochromatosis. Doctors or genetic counselors guide patients before and after this test.
Liver Biopsy: If doctors see signs of liver damage or cirrhosis, they may take a small piece of the liver to check for iron buildup and scarring.
Doctors also look for other health issues, such as joint pain, weight loss, diabetes, and tiredness. These problems can happen with iron overload or hereditary hemochromatosis.
Testing Family for Risk
Doctors may suggest genetic tests for healthy family members of someone with hemochromatosis. Parents, siblings, and children often get checked for changes in the HFE gene.
If only one parent has a gene change, children usually do not need testing. Early checks can spot problems before serious complications, like liver damage or cancer, develop. This is especially important in families with Northern European ancestry.
Ways to Lower Iron Levels
Taking Out Blood (Phlebotomy)
Doctors often treat iron overload by removing blood from the body, a process called phlebotomy. This works like a regular blood donation and helps lower extra iron.
Treatment Steps:
Starting Phase: At first, doctors usually remove about a pint (around 470 mL) of blood once or twice a week. The amount depends on age, health, and iron levels.
Ongoing Care: After iron levels reach normal, blood removal happens less often. Some people need it every 2 to 3 months. Others may keep healthy iron levels longer and need fewer blood draws.
Monitoring: Doctors track iron levels with blood tests and adjust how often blood is taken.
Benefits of Phlebotomy:
- Reduces or prevents tiredness, stomach pain, and skin color changes.
- Helps avoid serious health problems such as liver issues, heart disease, and diabetes.
| Phase | Blood Taken | Frequency |
|---|---|---|
| Initial (Therapeutic) | ~1 pint (470 mL) | 1-2 times weekly |
| Maintenance | ~1 pint (470 mL) | Every 1-3 months (varies) |
Phlebotomy cannot reverse liver scarring (cirrhosis) or joint damage, but it can help stop them from getting worse.
People with cirrhosis may need regular liver cancer screenings, including tests like ultrasounds or CT scans.
Medicine That Removes Iron (Iron Chelation)
Doctors use medicines to lower iron levels for people who cannot safely have blood removed. This method is called iron chelation.
How Chelation Works:
- The medicine comes as a pill or can be injected under the skin.
- It attaches to extra iron in the body.
- The body then removes the iron through urine or stool.
Common Chelation Drugs:
- Iron chelation agents are often used by doctors to treat iron overload.
When Chelation May Be Needed:
- Severe anemia or low blood counts
- Ongoing heart problems
- Not able to tolerate phlebotomy
Doctors use iron chelation less often than blood removal, but it is important for those who cannot use phlebotomy.
Everyday Choices and At-Home Care
People with hemochromatosis should avoid iron supplements and multivitamins with iron. These products can raise iron levels.
Doctors also recommend avoiding vitamin C supplements, since vitamin C increases iron absorption. Eating foods with vitamin C is usually fine, but taking extra vitamin C is not recommended.
Alcohol can make liver problems worse. People with hemochromatosis should limit or avoid drinking, especially if they already have liver disease.
Doctors advise staying away from raw fish and shellfish to lower the risk of certain infections.
| Recommendation | Why it matters |
|---|---|
| Avoid iron supplements | Lowers iron buildup in the body |
| Skip vitamin C supplements | Reduces extra iron absorption |
| Limit or avoid alcohol | Protects the liver |
| Avoid raw fish and shellfish | Lowers risk of bacterial infections |
Getting Ready for Your Visit
Steps You Can Take Beforehand
Check if you need to follow special instructions before your appointment, like fasting or avoiding certain foods.
Keep a list of symptoms and note all details, even those that do not seem related.
Record key personal details such as stressful events or recent health changes.
Find out about family medical history, especially if relatives have had liver problems or hemochromatosis.
- Write down all medications and supplements you take, including vitamins.
- Consider bringing a friend or family member to help you remember information during the visit.
Prepare a list of questions you want to discuss.
| Task | Done? |
|---|---|
| Ask about pre-appointment rules | |
| List your symptoms | |
| Gather family health history | |
| List medications/supplements | |
| Invite support person | |
| Write questions for the doctor |
Important Topics to Bring Up
Bring these questions or topics to your appointment:
- What could be causing these symptoms?
- Are any tests needed, and what are they for?
- Is the condition temporary or ongoing?
- What are the recommended treatment options?
- How can you manage this condition along with others you may have?
- Are there lifestyle or diet changes required?
You can always ask new questions during your appointment.
How Your Doctor Might Guide the Visit
Doctors often ask several questions to understand your health and guide your care. They focus on topics related to medical care and gastroenterology.
They may ask when your symptoms began. They might also ask if your symptoms stay the same or come and go.
Doctors want to know how strong or mild your symptoms are. They may ask if anything helps or worsens how you feel.
They could ask if you have a family history of hemochromatosis or liver disease. They may also ask about your alcohol use and how much you drink each week.
Doctors might ask if you take iron or vitamin C supplements. They may also want to know if you have received treatment for viral hepatitis or had blood transfusions before.
When you answer these questions clearly, your healthcare team can guide your care more effectively.
