Hemochromatosis

Información en español Title

Not a rare disease

Categories:

Blood Diseases

Summary Summary

Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration.^[1] Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection.^[2] There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance:^[3]

Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.^[2]^[4]

Last updated: 1/11/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal glucose tolerance	-
Alopecia	-
Amenorrhea	-
Arrhythmia	-
Arthropathy	-
Ascites	-
Autosomal recessive inheritance	-
Azoospermia	-
Cardiomegaly	-
Cardiomyopathy	-
Cirrhosis	-
Congestive heart failure	-
Diabetes mellitus	-
Elevated hepatic transaminases	-
Hepatocellular carcinoma	-
Hepatomegaly	-
Hyperpigmentation of the skin	-
Hypogonadotrophic hypogonadism	-
Impotence	-
Increased serum ferritin	-
Increased serum iron	-
Osteoporosis	-
Pleural effusion	-
Splenomegaly	-
Telangiectasia	-
Testicular atrophy	-

Last updated: 9/1/2017

Cause Cause

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

Hereditary hemochromatosis is caused by mutations in any of several genes:^[3]

type 1 hemochromatosis - the HFE gene

type 2 hemochromatosis - either the HFE2 or HAMP gene

type 3 hemochromatosis - the TFR2 gene

type 4 hemochromatosis - the SLC40A1 gene

These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs.^[3]

Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions.^[5]

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 likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.^[6]

Last updated: 11/19/2015

Inheritance Inheritance

Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has.

Types 1, 2, and 3 are inherited in an autosomal recessive manner.^[3] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.

Type 4 is inherited in an autosomal dominant manner.^[3] This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent.^[3]

Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.^[6]

Last updated: 11/19/2015

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

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 studying or have studied 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.
4044 West Lake Mary Boulevard
Unit #104 PMB 416
Lake Mary, FL 32746–2012
Telephone: 1–888–655–IRON (4766) or 407–829–4488
Fax: 407–333–1284
E-mail: mail@americanhs.org
Website: http://www.americanhs.org
Iron Disorders Institute Inc.
P.O. Box 675
Taylors, SC 29687
Fax: 864-292-1878
E-mail: info@irondisorders.org
Website: http://www.irondisorders.org/

Do you know of an organization? Send us your suggestions.

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.

Genetics 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 GeneTests, 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.

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

You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
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

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.
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.
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.

Related Diseases Related Diseases

The following diseases are related to Hemochromatosis. If you have a question about any of these diseases, you can contact GARD.

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. Submit a new question

Is hemochromatosis related to lupus? See answer
Do both parents have to carry the gene in order for a child to get hemochromatosis? See answer
Is it safe for people with hemochromatosis to run a marathon? See answer
Is moderate alcohol consumption harmful for individuals with hemochromatosis? What might cause ferritin levels to increase despite a low-iron diet? See answer