What is Hemochromatosis? Signs and Symptoms to Watch For

Written by Dr. Bharat Pothuri, MD, FACG | Updated On 08-25-2025

What is Hemochromatosis? Indications and Symptoms to Be Aware of.

Have you ever heard of that in which your body puts on too much iron? It is known as hemochromatosis, and it may be not as common as it may seem. Otherwise, untreated early this condition can lead to severe damage to your liver, heart and pancreas, joints and so on.

In this paper, we will dismantle the definition of hemochromatosis, the symptoms that can be observed, the risk factors, and what you can do about it.

What is Hemochromatosis?

Hemochromatosis is a disease in which your body takes and retains excess iron in the food you consume. Your body does not get rid of the additional iron but stores it. This accumulation may damage the significant organs with time and cause lifelong health issues.
Hemochromatosis is of various kinds:

Types of Hemochromatosis

1. Hereditary Hemochromatosis (Type 1):
   This is the most common form. It is brought about by the mutation of HFE gene particularly C282Y or H63D. When there are two copies on each parent, you will have high chances of absorbing excess iron.
2. Juvenile Hemochromatosis (Type 2):
   A rare variant that presents itself in adolescents or young adults. It is able to result in gross iron overloading in young age.
3. Secondary Hemochromatosis:
   This type isn't inherited. It arises out of such conditions as the chronic liver disease, blood disorders, or from frequent blood transfusions.
4. Neonatal Hemochromatosis:
   This is a very rare type of the disease in which babies are attacked by the immune system and might have to be treated in hospitals.

What Do You Know about the Cause of Hemochromatosis?

Genetics is the most prevalent cause. When you are born with two bad genes HFE, then your body does not control the iron levels. However, not all individuals who possess these genes will be infected.

Other causes include:

• Chronic hepatitis C
• Liver disease due to alcoholism
• Certain anemias
• Iron supplements or blood supplements frequently

Who is at Risk?

Anybody can get hemochromatosis but there are certain individuals more likely to get it:

• Men over age 40
• After menopause (because of reduced menstrual iron loss) in women.
• Individuals of European descent, particularly the Northern Europeans.
• Any person who has a family history of hemochromatosis or liver disease.
• Individuals who are chronically ill such as heart disease or diabetes.

In case you belong to one of the above-mentioned categories, discuss screening with your physician.

Symbols and Symptoms to be monitored

Hemochromatosis can have no symptoms in its early stages. This is why it is commonly referred to as a However, after a while, when iron accumulates, you can observe:

• Extreme exhaustion or energy depletion.
• Aches in joints, particularly in hands and joints.
• Unexplained weight loss
• Ached in the abdomen, particularly the upper right.
• Darkening of the skin (usually characterized as bronze or gray)
• Sexual dysfunction (loss of libido or impotence).
• Irregular heartbeat
• Memory fog or mood swings

All these signs will not be available to everybody. A single or two symptoms would be enough to indicate hemochromatosis.

Diagnosis Hemochromatosis is diagnosed through numerous methods?

The diagnosis begins with routine blood tests:

• Saturation of serum transferrin: Determines the quantity of iron which is held by your blood.
• Serum ferritin: Reports on the amount of iron that is being stored by your body.
• Genetic testing: Determines whether you are a carrier of the HFE gene mutations or not.

An additional test that could be ordered by your doctor is a blood test that indicates a lot of iron in the blood:

• Liver function tests
• Liver biopsy or MRI to identify scarring (fibrosis or cirrhosis)

Early diagnosis is key. When damage to the organs is started, it may prove difficult to undo.

What is Going to Happen When You Do Not Treat it?

Iron overload may result in:

• Liver cirrhosis
• Liver cancer
• Cardiovascular issues (arrhythmia or heart failure)
• Type 2 diabetes
• Joint damage (arthritis)
• Chronic fatigue

Others might even require a transplant of the liver in case the damage is serious. That is why it is important to have early care.

Therapy of Hemochromatosis

The good news? When detected early hemochromatosis can be treated successfully.

1. Therapeutic Phlebotomy

This is the treatment that is most prevalent. The blood (a donation) is taken out by your doctor to reduce the level of iron. This might be required every week initially, before becoming less frequent as the levels return to normal.

2. Iron Chelation Therapy

In case you cannot withstand the removal of blood, medications are applied in order to bind and excrete iron either in the urine or in the stool.

3. Diet and Lifestyle Changes

The simple adjustments can be used to control the level of iron:

• Snacks high in iron such as red meat, shellfish and liver should be avoided.
• Restrict alcohol (spares your liver)
• Do not use iron or vitamin C supplements (it is absorbed more)
• Have tea or coffee with food to decrease the amount of iron taken.

Hemochromatosis: Living with the condition

The treatment of hemochromatosis is related to equilibrium and consciousness. Majority of them enjoy long and healthy lives with early treatment and lifestyle modifications.

Tips for living well:

• Have blood done regularly to monitor iron levels.
• Stick to a low-iron diet
• Inform the family members to enable them to be tested.
• Be active and deal with stress.
• Collaborate with a specialist, such as a hematologist or gastroenterologist.

When to Talk to a Doctor

See your doctor if you:

• Always feel sleepy without any obvious cause
• Suffers from joint pain or liver pain
• Notice skin color changes
• Possess some hemochromatosis in the family

Simple blood test can provide you with the answers and, perhaps, avert major complications.

Final Thoughts

Hemochromatosis is a disease that has a tendency to go undetected but it does not have to. Early identification of the symptoms and early testing can save your organs and your health in general.

In case you believe that you may be threatened, do not wait. Talk to your doctor. Ask for a blood test. Or control your iron level and your health.

About the Author

Dr. Bharat Pothuri is a Board-Certified Gastroenterologist and Hepatologist. With extensive experience in digestive health, he specializes in advanced endoscopic procedures, chronic GI disorder management, and preventive care. Dr. Pothuri is dedicated to providing expert, patient-focused insights to help improve gut health and overall well-being.