Rare Medical News

Disease Profile

Hemochromatosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Blood Diseases

Summary

Hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of hemochromatosis can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration.[1] Symptoms of hemochromatosis typically begin between the ages of 40-60 years-old, but in some cases children may have symptoms of the disease.[2]

Hemochromatosis may be hereditary, meaning it is caused by genetic changes (mutations or pathogenic variants) to any of several genes including FTH1, HAMPHFEHFE2 (also known as HJV), SLC40A1, and TFR2.[2][3][4] Hereditary hemochromatosis is classified by type based on age of onset, genetic cause, and mode of inheritance:

In other cases, hemochromatosis develops as a side-effect or symptom of another disease such as anemia, chronic liver disease, or an infection. This is called acquired hemochromatosis.[1] When hemochromatosis develops in an infant and the exact cause of the disease cannot be determined, it is called neonatal hemochromatosis.[5]

A diagnosis of hemochromatosis is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing.[1] Treatment of hemochromatosis usually involves reducing iron levels by removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage.[1][6]

Cause

The cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form.

Hereditary hemochromatosis is caused by genetic changes (mutations or pathogenic variants) in any of several genes:[2]

These genes all provide the body with instructions to make proteins that help regulate how iron is absorbed from the diet, transported, and stored. Pathogenic variants in these genes cause changes in how iron is absorbed and distributed throughout the body. This causes iron to accumulate in tissues and organs, which can cause organ damage.[2]

Acquired hemochromatosis is usually a symptom of other blood-related disorders such as thalassemia or certain anemias. Acquired hemochromatosis can also be caused by having many blood transfusions or long-term alcohol use.[1][6]

The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This form of hemochromatosis appears to run in families, but the exact cause is unknown.[5]

Treatment

Treatment for hemochromatosis may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease. The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, and maintain normal amounts of iron throughout the lifetime.[1]

Phlebotomy helps to remove excess iron from the body. Most people begin treatment with weekly therapeutic phlebotomy, although sometimes treatment is initially twice a week if iron levels are very elevated. Maintenance phlebotomy usually involves treatment every 2-4 months.[6] Iron chelation therapy may be recommended for some people with hemochromatosis if they have other health issues. This involves removing excess iron using medications.[7]

Dietary recommendations for people with hemochromatosis may include avoiding alcohol and red meat. People with hemochromatosis are not recommended to take iron or vitamin C supplements.[7]

For more detailed information regarding the treatment of hemochromatosis, please reference the Medscape article about hemochromatosis. You may need to register to view the article, but registration is free. 

Organizations

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.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      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.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Hemochromatosis. This website is maintained by the National Library of Medicine.
      • The Merck Manual provides information on this condition for patients and caregivers.
      • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
      • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Merck Manual for health care professionals provides information on Hemochromatosis.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis. Click on the link to view a sample search on this topic.

          References

          1. Hemochromatosis. National Heart, Lung, and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health-topics/hemochromatosis. Accessed 1/28/2018.
          2. Hereditary hemochromatosis. Genetics Home Reference. May 2015; https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis.
          3. Hamilton JPA. Hereditary Hemochromatosis. Merck Manual Professional Version. January 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
          4. Hemochromatosis, Type 1; HFE1. Online Mendelian Inheritance in Man. September 7, 2016; https://www.omim.org/entry/235200.
          5. Whitington PF. Neonatal hemochromatosis. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/neonatal-hemochromatosis/.
          6. Gersten T. Hemochromatosis. MedlinePlus. March 16, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000327.htm.
          7. Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; https://emedicine.medscape.com/article/177216-overview.

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