Hemochromatosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Hemochromatosis?
A hepatologist (a liver doctor), a gastroenterologist (a doctor for the digestive system), or a hematologist (a blood doctor) often treats hemochromatosis. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is hemochromatosis?
Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload. The extra iron builds up in organs such as the liver, heart, and pancreas.
There are two main kinds. Primary hemochromatosis is caused by gene changes passed down in families. Secondary hemochromatosis has other causes, such as many blood transfusions. The body does not have a good way to get rid of extra iron.
Symptoms
Not everyone with hemochromatosis has symptoms. It may not cause symptoms for many years. Symptoms usually begin after age 40. On average, women develop symptoms about 10 years later than men. Symptoms can include:
- Feeling tired or weak.
- Pain in the joints, especially in the knees and hands.
- Loss of interest in sex, or erectile dysfunction (trouble getting or keeping an erection).
- Pain in the belly over the liver.
- Darkening of the skin, which may look gray, metallic, or bronze.
With more severe iron overload, people may develop cirrhosis (scarring of the liver), diabetes, or heart failure (a heart that cannot pump well enough).
Causes and who gets it
Primary hemochromatosis comes from gene changes that control how the body absorbs iron. The most common changes are in the HFE gene. A person must inherit two copies of the changed gene to have it, one from each parent.
The genetic type affects more men than women. It is most common in white people of northern European descent.
Secondary hemochromatosis most often follows blood transfusions given for severe anemia, such as sickle cell disease or thalassemia. Red blood cells carry a lot of iron. Severe liver disease can also cause iron overload.
How doctors diagnose it
Your doctor will do a physical exam. This may show a swollen liver or spleen, or changes in skin color. Blood tests help make the diagnosis. They can include:
- A ferritin level, which shows how much iron the body stores.
- An iron level.
- Transferrin saturation, which is high.
- Genetic testing.
Other tests look for damage. They include blood sugar, liver function tests, heart tests, and imaging tests such as CT scans, MRI, and ultrasound. A liver biopsy (a small sample of liver tissue) or genetic testing can confirm the diagnosis. If a gene change is found, blood tests can show whether family members are at risk.
Treatment
The goal of treatment is to remove extra iron from the body and treat any organ damage.
In most cases, doctors use phlebotomy. This means drawing about a pint of blood on a regular schedule. It is the most direct and safe way to lower the body's iron. Doctors usually start by drawing blood once or twice a week for several months. Regular blood tests check iron and ferritin levels. After levels return to normal, phlebotomy is done less often.
People who get blood transfusions for anemia and develop secondary hemochromatosis cannot have phlebotomy. They may take medicines called chelating agents. These bind to iron so it can leave the body in urine. They do not remove iron as well as phlebotomy does.
Phlebotomy can prevent complications. If you already have cirrhosis, liver failure, or liver cancer when hemochromatosis is found, phlebotomy may not restore health. Other problems, such as diabetes, arthritis, and heart failure, are treated too.
Your provider may also suggest a diet that lowers how much iron you absorb:
- Do not drink alcohol, especially if you have liver damage.
- Do not take iron pills or vitamins that contain iron.
- Do not use iron cookware.
- Limit foods with added iron, such as iron-fortified breakfast cereals.
- Avoid uncooked shellfish.
When to see a doctor
Contact your provider if you develop symptoms of hemochromatosis. Also ask about screening if a parent, brother, sister, or child has it.
Call 911 or go to the emergency room if you have chest pain or discomfort lasting two minutes or more, fainting, difficulty breathing, vomiting blood, or severe belly pain.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can order first blood tests, review the results, and follow your iron levels over time. They can also coordinate care with a liver or blood specialist.
Common questions
Is hemochromatosis inherited?
Yes, the primary type is. It is caused by gene changes that control how the body absorbs iron, and a person must inherit two copies of the changed gene. Secondary hemochromatosis comes from other causes, such as many blood transfusions or severe liver disease.
Can hemochromatosis be prevented?
You cannot prevent the gene changes that cause primary hemochromatosis. Early diagnosis still matters, because early treatment with phlebotomy can prevent complications of iron overload.
Can hemochromatosis damage the liver?
Yes, if it is not treated. Untreated iron overload can lead to serious and permanent liver damage. Early treatment can help prevent problems such as liver disease, heart disease, arthritis, or diabetes.
Should family members be tested for hemochromatosis?
Yes, close relatives should be checked. If a parent, brother, sister, or child has hemochromatosis, talk with your doctor about testing. Screening can find the disease early, so treatment can start before organs are damaged.
Sources
- National Institute of Diabetes and Digestive and Kidney Diseases - Symptoms & Causes of Hemochromatosis
- National Institute of Diabetes and Digestive and Kidney Diseases - Treatment of Hemochromatosis
- MedlinePlus - Hemochromatosis
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
