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• Diagnosis and Tests
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Summary

Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.

There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.

Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.

Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.

NIH: National Heart, Lung, and Blood Institute

Start Here

• Hemochromatosis (American Liver Foundation)
• Hemochromatosis (National Institute of Diabetes and Digestive and Kidney Diseases)
• Hereditary Hemochromatosis (American Academy of Family Physicians) Also in Spanish

Diagnosis and Tests

• Ferritin Blood Test (National Library of Medicine) Also in Spanish
• Iron Tests (National Library of Medicine) Also in Spanish
• Liver Function Tests (National Library of Medicine) Also in Spanish

Treatments and Therapies

• Iron Chelation (Aplastic Anemia and MDS International Foundation)

Genetics

• About Hemochromatosis (National Human Genome Research Institute)
• Hereditary hemochromatosis: MedlinePlus Genetics (National Library of Medicine)
• Hypochromic microcytic anemia with iron overload: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Hemochromatosis (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Risk profiling for cirrhosis and hepatocellular carcinoma in HFE hemochromatosis using...
• Article: Identifying haemochromatosis patients with C282Y homozygosity from inpatient electronic patient records...
• Article: Exploring the experiences of hemochromatosis (HHC) patients who undergo therapeutic venesection...
• Hemochromatosis -- see more articles

Find an Expert

• National Heart, Lung, and Blood Institute
• National Institute of Diabetes and Digestive and Kidney Diseases

Children

• Hereditary Hemochromatosis (For Parents) (Nemours Foundation) Also in Spanish

Patient Handouts

• Ferritin blood test (Medical Encyclopedia) Also in Spanish
• Hemochromatosis (Medical Encyclopedia) Also in Spanish
• Serum iron test (Medical Encyclopedia) Also in Spanish