Hemochromatosis

Información en español Title

Not a rare disease

Categories:

Blood Diseases

Subtypes:

Hemochromatosis type 1; Hemochromatosis type 2; Hemochromatosis type 3; Hemochromatosis type 1; Hemochromatosis type 2; Hemochromatosis type 3; Hemochromatosis type 4 See More

Summary 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 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. Early symptoms of hemochromatosis can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration.^[1] Symptoms of hemochromatosis typically begin between the ages of 40-60 years-old, but in some cases children may have symptoms of the disease.^[2]

Hemochromatosis may be hereditary, meaning it is caused by genetic changes (mutations or pathogenic variants) to any of several genes including FTH1, HAMP, HFE, HFE2 (also known as HJV), SLC40A1, and TFR2.^[2]^[3]^[4] Hereditary hemochromatosis is classified by type based on age of onset, genetic cause, and mode of inheritance:

In other cases, hemochromatosis develops as a side-effect or symptom of another disease such as anemia, chronic liver disease, or an infection. This is called acquired hemochromatosis.^[1] When hemochromatosis develops in an infant and the exact cause of the disease cannot be determined, it is called neonatal hemochromatosis.^[5]

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, MRI, or blood test. The diagnosis can be confirmed with genetic testing.^[1] Treatment of hemochromatosis usually involves reducing iron levels by removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage.^[1]^[6]

Last updated: 2/15/2018

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Alopecia	Hair loss	0001596
Amenorrhea	Abnormal absence of menstruation	0000141
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Arthropathy	Disease of the joints	0003040
Ascites	Accumulation of fluid in the abdomen	0001541
Autosomal recessive inheritance		0000007
Azoospermia	Absent sperm in semen	0000027
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Cardiomyopathy	Disease of the heart muscle	0001638
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Diabetes mellitus		0000819
Elevated hepatic transaminase	High liver enzymes	0002910
Glucose intolerance		0001952
Hepatocellular carcinoma		0001402
Hepatomegaly	Enlarged liver	0002240
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Hypogonadotrophic hypogonadism		0000044
Impotence	Difficulty getting a full erection Difficulty getting an erection Erectile dysfunction [ more ]	0000802
Increased serum ferritin	Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level [ more ]	0003281
Increased serum iron		0003452
Osteoporosis		0000939
Pleural effusion	Fluid around lungs	0002202
Splenomegaly	Increased spleen size	0001744
Telangiectasia		0001009
Testicular atrophy	Testicular degeneration	0000029

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

The cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form.

Hereditary hemochromatosis is caused by genetic changes (mutations or pathogenic variants) in any of several genes:^[2]

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 proteins that help regulate how iron is absorbed from the diet, transported, and stored. Pathogenic variants in these genes cause changes in how iron is absorbed and distributed throughout the body. This causes iron to accumulate in tissues and organs, which can cause organ damage.^[2]

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]

Last updated: 2/15/2018

Inheritance Inheritance

Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on which type a person has.^[2]

Hemochromatosis types 1, 2, and 3 are inherited in an autosomal recessive manner.^[2] This means that people with these types of hemochromatosis have a genetic change (mutation or pathogenic variant) in both copies of a gene causing hemochromatosis in each cell of the body. We inherit one copy of every gene from our mother and the other from our father. The parents of a person with hemochromatosis types 1, 2, or 3 are each expected to have one changed copy of the gene causing hemochromatosis. People with one changed copy of a gene are known as carriers. Carriers typically do not have signs or symptoms of hemochromatosis.

When two carriers of an autosomal recessive form of hemochromatosis have children, each child has a:

25% chance to have hemochromatosis
50% chance to be a carrier like each parent
25% chance to have two working copies of the genes causing hemochromatosis, meaning the child is unaffected and is not a carrier

Hemochromatosis types 4 and 5 are inherited in an autosomal dominant manner.^[2] People with these types of hemochromatosis have one changed copy of the SLC40A1 gene or FTH1 genes. In most cases, people with these types of hemochromatosis inherit the genetic change from a parent who also has the disease. When a person with an autosomal dominant type of hemochromatosis has children, each child has a:

50% to inherit hemochromatosis
50% chance to be unaffected

Acquired hemochromatosis is not inherited and is not thought to run in families. Neonatal hemochromatosis is thought to run in families, but the exact cause is not well understood.^[5]

Hemochromatosis is a disease that shows reduced penetrance. This means that some people with pathogenic variants causing hemochromatosis never show symptoms of the disease. However, children or family members who have pathogenic variants causing hemochromatosis may show symptoms of the disease.^[1]^[2]

Last updated: 2/15/2018

Treatment Treatment

Treatment for hemochromatosis may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease. The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, and maintain normal amounts of iron throughout the lifetime.^[1]

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.

Last updated: 2/15/2018

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Hemochromatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

American Hemochromatosis Society, Inc.
PO Box 950871
Lake Mary, FL 32795
Toll-free: 1–888–655–IRON (4766)
Telephone: 407–829–4488
Fax: 407–333–1284
E-mail: mail@americanhs.org
Website: http://www.americanhs.org
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: office@toomuchiron.ca
Website: http://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: helpline@ironoverload.org.uk , office@ironoverload.org.uk
Website: www.haemochromatosis.org.uk
Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: info@irondisorders.org
Website: http://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: AskADA@diabetes.org
Website: http://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/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More 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.
Genetics Home Reference (GHR) contains information on Hemochromatosis. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.