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
- What Are the Signs and Symptoms of Hemochromatosis? (National Heart, Lung, and Blood Institute)
Diagnosis and Tests
- Ferritin Test (American Association for Clinical Chemistry)
- How Is Hemochromatosis Diagnosed? (National Heart, Lung, and Blood Institute)
- Iron Test (American Association for Clinical Chemistry)
- MedlinePlus: Liver Function Tests (National Library of Medicine)
- TIBC, UIBC and Transferrin (American Association for Clinical Chemistry)
- Living with Hemochromatosis (National Heart, Lung, and Blood Institute)
- What Causes Hemochromatosis? (National Heart, Lung, and Blood Institute)
- Genetics Home Reference: hereditary hemochromatosis (National Library of Medicine)
- Learning about Hereditary Hemochromatosis (National Human Genome Research Institute)
Videos and Tutorials
- What Is Hemochromatosis? (Dolan DNA Learning Center)
- ClinicalTrials.gov: Hemochromatosis (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity...
- Article: Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and...
- Article: Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis...
- Hemochromatosis -- see more articles
- Hereditary Hemochromatosis (For Parents) (Nemours Foundation)