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If you’re experiencing severe abdominal pain, fever, or heavy bleeding, call 911.

Hemochromatosis

Hemochromatosis Explained

Most commonly, hereditary hemochromatosis is caused by a genetic change that leads to excessive iron absorption from the diet. Extra iron accumulates in the liver, heart, pancreas, joints, and other tissues. Without treatment, this can lead to cirrhosis, diabetes, heart problems, arthritis, and hormone changes. Early diagnosis and treatment can prevent or greatly reduce these complications.

Symptoms

Symptoms may be subtle at first—like fatigue or joint pain—and many people are diagnosed only after abnormal blood tests or family screening.

Symptoms include:
Fatigue and weakness
Joint pain or stiffness
Skin darkening or “bronzing” in some patients
Abdominal discomfort
Signs of advanced disease such as diabetes, liver disease, or heart problems

When to call

Call the office if you have known hemochromatosis and notice fatigue, joint pain, or new symptoms, or if a family member has hemochromatosis and you have questions about screening.

Seek emergency care for chest pain, shortness of breath, severe abdominal pain, confusion, or other signs of acute heart or liver failure.

Evaluation & Tests
Management & Treatment

Diagnosis is based on blood tests that measure iron levels and saturation, genetic testing, imaging, and sometimes liver biopsy to assess iron load and liver damage.

Iron studies (serum ferritin, transferrin saturation)
Genetic testing for hereditary hemochromatosis when iron overload is confirmed
Liver tests and imaging to assess damage
Sometimes liver biopsy or MRI to quantify iron
Screening of family members when hereditary hemochromatosis is diagnosed

The primary treatment is regular removal of blood (therapeutic phlebotomy) to lower iron stores. Dietary guidance and management of complications are also important.

Scheduled phlebotomy (similar to donating blood) until iron levels normalize, then maintenance schedule
Avoidance of unnecessary iron supplements and careful use of vitamin C (which increases iron absorption)
Limiting alcohol to reduce liver injury
Monitoring for and treating complications such as diabetes, heart disease, and arthritis
Lifelong follow-up of iron levels
This information is for general educational purposes only and is not a diagnosis or personalized medical advice. It does not replace a visit with your own healthcare provider. Always follow the specific recommendations given by your medical team. If you have urgent or worsening symptoms, contact your provider or seek emergency care right away.

At-a-glance

Abdominal painWeight loss / anemia

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