National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hemochromatosis type 5


Other Names:
FTH1-related iron overload
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:
Last updated: 2/18/2018
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] 
Last updated: 2/18/2018
Hemochromatosis type 5 is inherited in an autosomal dominant manner.[2] This means that people with the disease have a genetic change (mutation or pathogenic variant) in one copy of the FTH1 gene in each cell of the body. We inherit one copy of every gene from our mother and the other from our father.

When a person with hemochromatosis type 5 has children, each child has a:
  • 50% chance to inherit the pathogenic variant in the FTH1 gene
  • 50% chance to inherit the working copy of FTH1, meaning he or she will not develop symptoms of hemochromatosis type 5
Last updated: 2/18/2018
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. 
Last updated: 2/18/2018

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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.

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  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; http://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
  6. Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; http://emedicine.medscape.com/article/177216-overview.