Rare Endocrinology News
Disease Profile
Hemochromatosis type 5
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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.
Not applicable
Other names (AKA)
FTH1-related iron overload
Summary
Hemochromatosis type 5 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 type 5 is caused by genetic changes (
To learn more about other types of hemochromatosis click on the disease names below:
- Hemochromatosis type 1
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Neonatal hemochromatosis
Cause
Treatment
If a person with hemochromatosis type 5 has symptoms of the disease, a doctor may recommend treatments that are used in other types of symptomatic hemochromatosis. Treatment options may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease.[5]
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.[6]
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
-
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
-
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.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Hemochromatosis type 5 in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis type 5. 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.
- Hemochromatosis, Type 5; HFE5. Online Mendelian Inheritance in Man. November 6, 2013; https://omim.org/entry/615517.
- Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, and Niitsu Y. A Mutation, in the Iron-Responsive Element of H Ferritin mRNA, Causing Autosomal Dominant Iron Overload. American Journal of Human Genetics. July 2001; 69(1):191-197. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226033/.
- FTH1 ferritin heavy chain 1 [Homo sapiens (human)]. National Center for Biotechnology Information. January 27, 2018; https://www.ncbi.nlm.nih.gov/gene/2495.
- Hamilton JPA. Hereditary Hemochromatosis. Merck Manual Professional Version. January 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
- Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; https://emedicine.medscape.com/article/177216-overview.
Rare Endocrinology News