Hemochromatosis may be aquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance.[2] To learn more about these types click on the disease names below:
Hemochromatosis type 1
Hemochromatosis type 2
Hemochromatosis type 3
There is also a neonatal form of hemochromatosis:
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Arthralgia | Very frequent (present in 80%-99% of cases) |
| Generalized hyperpigmentation | Very frequent (present in 80%-99% of cases) |
| Increased serum ferritin | Very frequent (present in 80%-99% of cases) |
| Joint dislocation | Very frequent (present in 80%-99% of cases) |
| Joint swelling | Very frequent (present in 80%-99% of cases) |
| Limitation of joint mobility | Very frequent (present in 80%-99% of cases) |
| Hepatic steatosis | Frequent (present in 30%-79% of cases) |
| Cirrhosis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Hemochromatosis type 4. If you have a question about any of these diseases, you can contact GARD.
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Is moderate alcohol consumption harmful for individuals with hemochromatosis? What might cause ferritin levels to increase despite a low-iron diet? See answer
