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Disease Profile

Hemochromatosis type 5

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.

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US Estimated

Europe Estimated

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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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 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.[1] Hemochromatosis type 5 has only been reported in one family from Japan. People in this family who had the disease did not have any symptoms. However, an MRI showed increased levels of iron in the liver, heart, and bone marrow. There were also high levels of iron in the blood.[2][3]

Hemochromatosis type 5 is caused by genetic changes (mutations or pathogenic variants) to the FTH1 gene.[2] The disease is inherited in an autosomal dominant manner. Because hemochromatosis type 5 is so rare, the disease may not be suspected until signs are seen on an MRI, liver biopsy, or a blood test. The diagnosis may be confirmed with genetic testing.[1] Treatment for hemochromatosis type 5 may depend on the signs or symptoms in each person. Treatments that can be used to reduce iron levels in people with other types of hemochromatosis include removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage.[1]

To learn more about other types of hemochromatosis click on the disease names below:

Cause

Hemochromatosis type 5 is caused by genetic changes (mutations or pathogenic variants) in the FTH1 gene.[2] This gene provides the body with instructions to make a protein called ferritin. Ferritin is a protein that is made of many parts (subunits), and its function is to help store iron in the body. When there are changes in the FTH1 gene, ferritin does not store the appropriate amount of iron in the body. This causes iron to accumulate in different areas of the body, resulting in the signs of hemochromatosis type 5.[4] 

Treatment

The treatment options for hemochromatosis type 5 may depend on the signs or symptoms that each person has. The family with this disease that has been reported in the medical literature did not have symptoms of the disease. For people who do not have symptoms of hemochromatosis type 5, treatment may not be necessary. Doctors may wish to monitor these people with blood tests to make sure iron levels do not become too high. This management is used for people who have other types of asymptomatic hemochromatosis.[5]

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

    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.

      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

        1. Hemochromatosis. National Heart, Lung, and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health-topics/hemochromatosis. Accessed 1/28/2018.
        2. Hemochromatosis, Type 5; HFE5. Online Mendelian Inheritance in Man. November 6, 2013; https://omim.org/entry/615517.
        3. 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/.
        4. FTH1 ferritin heavy chain 1 [Homo sapiens (human)]. National Center for Biotechnology Information. January 27, 2018; https://www.ncbi.nlm.nih.gov/gene/2495.
        5. Hamilton JPA. Hereditary Hemochromatosis. Merck Manual Professional Version. January 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
        6. Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; https://emedicine.medscape.com/article/177216-overview.

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