Hemochromatosis type 4
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
HFE4; Hemochromatosis, autosomal dominant; Hemochromatosis due to defect in ferroportin;
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Hemochromatosis type 4 (also called ferroportin disease) 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 4A
- Hemochromatosis type 4B
People with hemochromatosis type 4A might not have any symptoms of the disease. Other individuals may develop liver disease as they get older. Hemochromatosis type 4B can be associated with fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, difficulty breathing, and skin discoloration. Symptoms of hemochromatosis type 4B can begin anytime from childhood to adulthood. Hemochromatosis type 4 is most common in people of southern European ancestry.
Hemochromatosis type 4 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 5
- Neonatal hemochromatosis
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Increased serum ferritin||
Elevated serum ferritin
High ferritin level
Increased serum ferritin level
[ more ]
Recurrent joint dislocations
[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|30%-79% of people have these symptoms|
Pain in stomach
[ more ]
Fatty infiltration of liver
[ more ]
|5%-29% of people have these symptoms|
Scar tissue replaces healthy tissue in the liver
Excessive buildup of connective tissue and scarring of liver at birth
|Percent of people who have these symptoms is not available through HPO|
Low number of red blood cells or hemoglobin
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
[ more ]
Disease of the heart muscle
Clouding of the lens of the eye
[ more ]
[ more ]
|Impaired glucose tolerance||0040270|
Difficulty getting a full erection
Difficulty getting an erection
[ more ]
Degenerative joint disease
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for people with hemochromatosis type 4A typically does not involve phlebotomy. This is because people with hemochromatosis type 4A may develop low levels of
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.
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.
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.
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
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.
- Genetics Home Reference (GHR) contains information on Hemochromatosis type 4. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis type 4. Click on the link to view a sample search on this topic.
- Hemochromatosis. National Heart, Lung, and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health-topics/hemochromatosis. Accessed 1/28/2018.
- Brissot P. Hemochromatosis type 4. Orphanet. March 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139491.
- Neves J, Leitz D, Kraut S, Brandenberger C, Agrawal R, Weissmann N, Muhlfeld C, Mall MA, Altamura S, and Muckenthaler MU. Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease. EBioMedicine. June 2017; 20:230-239. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478206/.
- Hemochromatosis, Type 4; HFE4. Online Mendelian Inheritance in Man. June 21, 2016; https://www.omim.org/entry/606069.
- Hamilton JPA. Hereditary Hemochromatosis. Merck Manual Professional Version. January 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis.
- Hereditary hemochromatosis. Genetics Home Reference (GHR). May 2015; https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis.
- Duchini A, Sfeir HE, and Klachko DM. Hemochromatosis. Medscape. April 4, 2017; https://emedicine.medscape.com/article/177216-overview.
- SLC40A1 gene. MedlinePlus genetics. October 2012; https://medlineplus.gov/genetics/gene/SLC40A1.