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Disease Profile
Hemochromatosis
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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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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
Hemochromatosis may be hereditary, meaning it is caused by genetic changes (
- Hemochromatosis type 1
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hemochromatosis type 5
In other cases, hemochromatosis develops as a side-effect or symptom of another disease such as
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,
Cause
Hereditary hemochromatosis is caused by genetic changes (
- Hemochromatosis type 1 is caused by pathogenic variants in the HFE gene
- Hemochromatosis type 2 is caused by pathogenic variants in the HFE2 (HJV) or HAMP genes
- Hemochromatosis type 3 is caused by pathogenic variants in the TFR2 gene
- Hemochromatosis type 4 is caused by pathogenic variants in the SLC40A1 gene
- Hemochromatosis type 5 is caused by pathogenic variants in the FTH1 gene
These genes all provide the body with instructions to make
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
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
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Canadian Hemochromatosis Society
7000 Minoru Boulevard
Suite 285
Richmond British Columbia, V6Y 3Z5 Canada
Toll-free: (877) 223-4766
Telephone: (604) 279-7135
E-mail: [email protected]
Website: https://www.toomuchiron.ca -
Haemochromatosis Australia
PO Box 6185
Meridian Plains Qld, 4551 Australia
Telephone: 1300 019 028
E-mail: https://haemochromatosis.org.au/contact-us/
Website: https://haemochromatosis.org.au/ -
Haemochromatosis Society
PO Box 6356
Rugby Warwickshire , CV21 9PA United Kingdom
Telephone: 03030 401 101
E-mail: [email protected], [email protected]
Website: https://haemochromatosis.org.uk/ -
Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: [email protected]
Website: https://www.irondisorders.org/
Organizations Providing General Support
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American Diabetes Association
2451 Crystal Drive
Suite 900
Arlington, VA 22202
Toll-free: 1–800–DIABETES (342–2383)
Fax: 703–549–6995
E-mail: [email protected]
Website: https://www.diabetes.org -
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/
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
- Hemochromatosis. National Heart, Lung, and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health-topics/hemochromatosis. Accessed 1/28/2018.
- Hereditary hemochromatosis. Genetics Home Reference. May 2015; https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis.
- Hamilton JPA. Hereditary Hemochromatosis. Merck Manual Professional Version. January 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
- Hemochromatosis, Type 1; HFE1. Online Mendelian Inheritance in Man. September 7, 2016; https://www.omim.org/entry/235200.
- Whitington PF. Neonatal hemochromatosis. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/neonatal-hemochromatosis/.
- Gersten T. Hemochromatosis. MedlinePlus. March 16, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000327.htm.
- Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; https://emedicine.medscape.com/article/177216-overview.
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