Hereditary hemochromatosis is a rare genetic disorder that causes the body to absorb and store too much iron from food. Iron is essential for various bodily functions, such as making red blood cells and carrying oxygen throughout the body. However, in individuals with hereditary hemochromatosis, excessive iron buildup can lead to serious health problems.
There are several types of hereditary hemochromatosis, with the most common type being caused by mutations in a gene called HFE. Other genes, such as HAMP, TFR2, and SLC40A1, have also been associated with different forms of the condition. The inheritance pattern of hereditary hemochromatosis is typically autosomal recessive, meaning that both parents must carry a mutated gene for their child to be affected. However, in some rare cases, an autosomal dominant inheritance pattern may occur.
The symptoms of hereditary hemochromatosis can be nonspecific and vary greatly from person to person. Some individuals may experience fatigue, joint pain, abdominal pain, or an enlarged liver. Over time, excessive iron accumulation can lead to more serious complications, such as liver disease, heart problems, and hormonal imbalances.
Research and clinical trials are ongoing to better understand the underlying causes of hereditary hemochromatosis and develop more effective treatments. Various resources, such as the National Center for Advancing Translational Sciences (NCATS) and the Genetics Home Reference, provide additional information about the genes associated with this condition, as well as clinical trials and support resources for patients and their families.
In conclusion, hereditary hemochromatosis is a rare genetic disorder characterized by excessive iron absorption and storage in the body. It is associated with mutations in various genes, and its inheritance pattern can vary. Early detection and appropriate management, including regular monitoring and therapeutic phlebotomy, can help prevent complications and improve outcomes for individuals with hereditary hemochromatosis.
Frequency
Hereditary hemochromatosis is a fairly common genetic disorder, particularly in people of Northern European descent. It is estimated to affect approximately 1 in every 200 to 300 individuals in the United States. The frequency of hereditary hemochromatosis varies depending on the population being studied.
According to the Center for Disease Control and Prevention (CDC) and the National Center for Biotechnology Information (NCBI), hereditary hemochromatosis is the most common genetic disorder in the Caucasian population. It is less commonly found in individuals of Asian, African, and Hispanic descent.
There are several different genes that can cause hereditary hemochromatosis, the most common being the HFE gene. Mutations in the HFE gene are responsible for approximately 80 to 90% of cases of hereditary hemochromatosis.
ClinicalTrials.gov is a valuable resource to learn more about ongoing research and clinical trials related to hereditary hemochromatosis. Other names for this condition include: Hemochromatosis, Hereditary Type; Juvenile Hemochromatosis; Hemochromatosis, Type 1; and Hemochromatosis, Type 2A.
It is important for patients with hereditary hemochromatosis to receive regular medical check-ups and monitoring. Testing for hereditary hemochromatosis is typically done through blood tests to check iron levels and genetic testing to identify any mutations in the associated genes. The Liver Diseases and Genetic Testing section of the ClinicalTrials.gov website and the OMIM (Online Mendelian Inheritance in Man) catalog provide additional information about genetic testing and related disorders.
In individuals with hereditary hemochromatosis, iron builds up in the body over time. This excess iron can lead to various complications and health problems, particularly affecting the liver. It is important for patients to follow a controlled diet and receive treatment to manage the condition.
Support groups and resources are available to help patients and their families cope with hereditary hemochromatosis. The Rare Diseases section of the National Institutes of Health (NIH) website provides scientific articles and information about hereditary hemochromatosis. Information about clinical trials and ongoing research studies can be found on websites such as PubMed and ClinicalTrials.gov.
Gasparini et al. conducted a study on the frequency of different types of hereditary hemochromatosis and associated genes. The study found that the HFE gene mutation was the most common cause of hereditary hemochromatosis, followed by mutations in other genes such as TFR2, HAMP, and HJV. The study also highlighted the importance of understanding the different types and causes of hereditary hemochromatosis for accurate diagnosis and appropriate management of the condition.
References:
- “Hereditary Hemochromatosis.” Centers for Disease Control and Prevention. Retrieved from: https://www.cdc.gov/genomics/disease/hemochromatosis.htm
- “Hereditary Hemochromatosis.” National Center for Biotechnology Information. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK1440/
- “Liver Diseases and Genetic Testing.” ClinicalTrials.gov. Retrieved from: https://www.clinicaltrials.gov/ct2/results?recrs=&cond=Hereditary+Hemochromatosis&term=&cntry=&state=&city=&dist=
- “Hereditary Hemochromatosis.” Online Mendelian Inheritance in Man (OMIM). Retrieved from: https://www.omim.org/entry/235200
- “Rare Diseases.” National Institutes of Health. Retrieved from: https://rarediseases.info.nih.gov/diseases/7037/hereditary-hemochromatosis
- Gasparini, Paolo et al. “Frequency of mutations in the HFE gene associated with hereditary hemochromatosis in the Veneto population (Italy)” The American Journal of Human Genetics. 1999.
Causes
Hereditary hemochromatosis (HH) is often caused by mutations in the genes that regulate the absorption and metabolism of iron in the body. Mutations in the HFE gene are the most common cause of HH, accounting for about 85-90% of cases. Other rare genes associated with hereditary hemochromatosis include HJV, HAMP, and TFR2.
Inheritance of hereditary hemochromatosis is autosomal recessive, meaning that an individual must have two copies of the mutated gene to develop the condition. If an individual inherits only one mutated gene, they are considered a carrier and do not typically experience symptoms of iron overload.
The precise mechanisms by which mutations in these genes lead to iron overload are not fully understood. However, it is believed that these mutations result in increased absorption of iron from the diet and impaired regulation of iron levels in the body, leading to excessive accumulation of iron in various tissues, particularly the liver.
Additionally, other factors such as age, gender, and hormones may play a role in the development and progression of hereditary hemochromatosis. Men are more commonly affected by the condition than women, and symptoms usually appear after the age of 40 in men and after menopause in women.
Some rare types of hereditary hemochromatosis may be associated with other diseases and disorders. For example, juvenile hemochromatosis typically begins in adolescence or early adulthood and is associated with heart disease and endocrine abnormalities.
Genetic testing is available to confirm a diagnosis of hereditary hemochromatosis and to identify the specific genes involved. Additional testing may be done to assess the severity of iron overload and to monitor the response to treatment.
For more information about the causes of hereditary hemochromatosis, refer to the following resources:
- Genetics Home Reference: Hereditary Hemochromatosis
- Online Mendelian Inheritance in Man (OMIM): Hereditary Hemochromatosis
- National Center for Advancing Translational Sciences: ClinicalTrials.gov
- Center for Disease Control and Prevention: Iron Overload
Learn more about the genes associated with Hereditary hemochromatosis
Hereditary hemochromatosis is a rare genetic condition that causes the body to absorb and store too much iron, leading to iron overload. It is primarily caused by mutations in certain genes.
If you are interested in learning more about the genes associated with Hereditary hemochromatosis, you can find valuable resources and information from various scientific research articles, studies, and references. These resources often provide information about the frequency of testing for hereditary hemochromatosis and the associated mutated genes.
One of the main genes associated with hereditary hemochromatosis is the HFE gene. Mutations in this gene are responsible for most cases of the condition. The HFE gene is involved in the regulation of iron absorption in the small intestine. Testing for mutations in the HFE gene can help diagnose hereditary hemochromatosis.
Other genes that have been associated with hereditary hemochromatosis include the TFR2 gene and the HAMP gene. These genes also play a role in iron metabolism and can be tested for mutations in individuals suspected of having hereditary hemochromatosis.
To learn more about the specific genes associated with hereditary hemochromatosis, you can refer to resources such as the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) database. These databases provide comprehensive information about genetic diseases, including hereditary hemochromatosis, and the genes involved.
In addition to genetic resources, there are also advocacy and support organizations that provide additional information on hereditary hemochromatosis. These organizations often have resources for patients, including information on clinical trials, research studies, and support groups.
If you are interested in participating in research studies or clinical trials related to hereditary hemochromatosis, you can find more information on websites such as ClinicalTrials.gov. These websites list ongoing studies and trials that are investigating potential treatments and interventions for the condition.
Overall, learning more about the genes associated with hereditary hemochromatosis can provide valuable insights into the causes and potential treatments for this rare and often underdiagnosed condition. By staying informed and seeking out resources, individuals and healthcare professionals can better understand the genetic basis of hereditary hemochromatosis and provide appropriate care for affected individuals.
Inheritance
Hereditary hemochromatosis is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
There are several genes that have been associated with hereditary hemochromatosis, including HFE, HFE2, HAMP, and TFR2. Mutations in these genes can disrupt the body’s regulation of iron absorption, leading to an excessive accumulation of iron in the organs and tissues, particularly the liver.
It is important for patients with hereditary hemochromatosis to undergo genetic testing to confirm a diagnosis and determine the specific gene mutations involved. Genetic testing can also be used to identify carriers of the mutated genes, allowing for early detection and intervention in at-risk individuals.
For patients who are diagnosed with hereditary hemochromatosis, there are several treatment options available. These may include regular blood donations to reduce excess iron levels, iron chelation therapy to remove excess iron from the body, and dietary changes to limit iron intake.
In addition to genetic causes, there are also other causes of iron overload that can result in a similar clinical presentation to hereditary hemochromatosis. These include certain types of anemia, chronic liver disease, and excessive iron supplementation.
Further information and support for patients with hereditary hemochromatosis can be found through advocacy organizations such as the Hereditary Hemochromatosis organization and the Iron Disorders Institute. These organizations provide resources, support, and information on clinical trials and research studies related to the condition.
For more scientific information on hereditary hemochromatosis, additional references can be found in scientific journals such as the American Journal of Human Genetics, the Journal of Medical Genetics, and the Genetic Testing and Molecular Biomarkers journal. PubMed and OMIM are also valuable resources for learning more about the condition and related research studies.
In summary, hereditary hemochromatosis is a rare genetic disorder characterized by excessive iron absorption and accumulation in the body. It is inherited in an autosomal recessive manner and is associated with mutations in genes involved in iron regulation. Genetic testing is an important tool for diagnosing and managing the condition, and there are various treatment options available. Patients and their families can find support and resources through advocacy organizations and scientific research publications.
Other Names for This Condition
Hereditary hemochromatosis is a genetic disorder that results in excessive absorption of dietary iron by the body. This condition is also known by various other names including:
- Genetic hemochromatosis
- Hemochromatosis type 1
- HFE-related hereditary hemochromatosis
- HH
- Bronze diabetes
- Iron overload disorder
- Iron storage disease
- Iron poisoning
These names are often used interchangeably when referring to the condition. Each name highlights a different aspect of the disorder, such as its genetic basis, clinical manifestations, or the accumulated iron in the body.
It is important to note that hereditary hemochromatosis has several subtypes, each associated with different genes and inheritance patterns. The most common subtype is caused by mutations in the HFE gene, but there are also other genes implicated in this condition.
If you are looking for more information about hereditary hemochromatosis, you can find articles, resources, studies, and testing information on websites such as the National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD). These resources provide comprehensive information about the condition, its causes, types, testing, and treatment options.
In addition, you can find patient support and advocacy organizations that offer support, educational materials, and resources for individuals affected by hereditary hemochromatosis. Some well-known organizations include the Iron Disorders Institute and the American Hemochromatosis Society.
If you are interested in participating in research studies or clinical trials related to hereditary hemochromatosis, you can search for ongoing trials on websites such as ClinicalTrials.gov. These trials aim to explore new treatment options, understand the disease better, and improve the quality of life for individuals with hereditary hemochromatosis.
If you are a healthcare professional or researcher looking for additional scientific references and articles about hereditary hemochromatosis, you can refer to databases such as PubMed and OMIM. These databases contain a wealth of information on the topic, including research papers, case studies, and genetic studies.
In summary, hereditary hemochromatosis is a relatively rare condition, but it is important to raise awareness about it due to its potential impact on health. Learning more about the condition, its genetic basis, associated disorders, and available testing options can help individuals and healthcare professionals identify and manage hereditary hemochromatosis more effectively.
Additional Information Resources
Patients can learn more about hereditary hemochromatosis and other liver diseases by referring to the following resources:
- PubMed: A database of articles on genetics and hereditary diseases.
- Genetic Testing: Learn more about genetic testing to determine the presence of hereditary hemochromatosis.
- Support Groups: Connect with support groups and advocacy organizations for hereditary hemochromatosis.
- Articles and References: Access scientific articles and references related to the causes, types, and associated conditions of hereditary hemochromatosis.
- Rare Disease Catalog: A catalog of rare diseases, including hereditary hemochromatosis.
- OMIM (Online Mendelian Inheritance in Man): Information on genes and disorders associated with hereditary hemochromatosis.
- Genetic Research Studies: Information on ongoing research studies and clinical trials related to hereditary hemochromatosis.
For more information, patients can visit the Genetic Testing and Counseling Center or consult clinicaltrialsgov.
Please note: The information provided in these resources is for educational purposes only and should not replace advice from healthcare professionals.
Genetic Testing Information
Hereditary hemochromatosis is a genetic condition that causes the body to absorb and store too much iron. It is one of the most common hereditary diseases, affecting primarily the liver.
Genetic testing can provide valuable information about this condition. By analyzing a patient’s genes, scientists can identify any mutated genes that may be responsible for the development of hereditary hemochromatosis.
There are several different types of hereditary hemochromatosis, each associated with specific genes. The most common type is caused by mutations in the HFE gene, but there are other genes that have been identified as well.
Research studies have cataloged these genes and provided scientific information about their frequency and association with the condition. The OMIM and PubMed databases are excellent resources for learning more about the genes associated with hereditary hemochromatosis.
In addition to genetic testing, there are other resources available for patients and their families. Rare Diseases Advocacy provides support and information about rare diseases, including hereditary hemochromatosis. ClinicalTrials.gov is a database of clinical trials related to hereditary hemochromatosis, where patients can learn about ongoing research and potential treatment options.
It is important to note that hereditary hemochromatosis is not the only condition associated with iron overload. There are other disorders, both genetic and acquired, that can also cause excessive iron absorption and storage. Genetic testing can help differentiate between these conditions and provide more information about the underlying causes.
Patients who undergo genetic testing for hereditary hemochromatosis should work closely with their healthcare provider to understand the results and develop an appropriate treatment plan. Genetic counseling may also be recommended to further explain the inheritance patterns and implications of the test results.
By utilizing genetic testing and additional resources, individuals with hereditary hemochromatosis can gain a better understanding of their condition and access more targeted treatment options.
References:
- Gasparini, P. Genet Test. 1998;2(4):303-10.
- OMIM. https://www.omim.org/
- PubMed. https://pubmed.ncbi.nlm.nih.gov/
- ClinicalTrials.gov. https://clinicaltrials.gov/
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides support and information about genetic and rare diseases. One such condition is hereditary hemochromatosis, a genetic disorder that causes iron overload in the body.
Hereditary hemochromatosis is caused by mutations in the HFE gene, which is involved in regulating the iron levels in the body. When this gene is mutated, it can result in the excessive absorption of iron from the diet, leading to the accumulation of iron in various organs, especially the liver.
There are different types of hereditary hemochromatosis, often referred to as types 1, 2, 3, 4, and so on. Each type is associated with mutations in different genes and has slightly different clinical features.
GARD provides a wealth of information on hereditary hemochromatosis, including scientific articles, clinical studies, and resources for patients and advocacy organizations. The GARD website offers a catalog of rare diseases, with information on symptoms, diagnosis, treatment, and support groups.
Testing for hereditary hemochromatosis typically involves analyzing the HFE gene for mutations. Inheritance of the mutated genes follows an autosomal recessive pattern.
Individuals with hereditary hemochromatosis may experience a wide range of symptoms, including fatigue, joint pain, and abdominal pain. The condition can also lead to complications such as liver disease, diabetes, and heart problems.
For more information on hereditary hemochromatosis, GARD recommends consulting additional resources such as OMIM, PubMed, and ClinicalTrials.gov. These sources provide more in-depth information on the condition, ongoing research studies, and potential treatment options.
Overall, GARD serves as a valuable resource for individuals seeking information on hereditary hemochromatosis and other rare genetic disorders. The center offers support, educational materials, and connections to advocacy groups to help patients and their families navigate the challenges of living with these conditions.
Patient Support and Advocacy Resources
There are several patient support and advocacy resources available for individuals and families affected by hereditary hemochromatosis. These resources aim to provide information, support, and resources to help patients navigate their condition.
1. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with hereditary hemochromatosis, including the type of inheritance and the frequency of mutated genes.
2. Haemochromatosis Support Groups: There are various support groups and organizations dedicated to supporting individuals with hereditary hemochromatosis. These groups offer educational materials, support networks, and advocacy resources for patients and their families.
3. ClinicalTrials.gov: This online resource offers a database of clinical studies and trials related to hereditary hemochromatosis. Patients can find information on ongoing or upcoming research studies, as well as opportunities to participate in clinical trials.
4. Liver Centers: Many liver centers and hospitals have dedicated clinics or departments that specialize in the diagnosis and treatment of hereditary hemochromatosis. These centers often have multidisciplinary teams of healthcare professionals who can provide specialized care for patients with the condition.
5. Patient Education Materials: Various organizations and websites offer patient-centered articles, brochures, and fact sheets on hereditary hemochromatosis. These educational materials aim to provide patients with information on the causes, symptoms, diagnosis, and treatment options for the condition.
6. Genetic Testing: Genetic testing is often recommended for individuals suspected of having hereditary hemochromatosis. This testing can confirm the diagnosis and help determine the specific genetic mutations associated with the condition.
7. Scientific Research Papers: Scientific research papers and articles on hereditary hemochromatosis can provide patients with more in-depth information on the condition. These papers may cover topics such as the underlying mechanisms, genetic causes, and potential treatment strategies for hereditary hemochromatosis.
8. Other Resources: Patients can also find additional information and resources on hereditary hemochromatosis through online platforms such as PubMed, Genetic and Rare Diseases Information Center (GARD), and other reputable medical websites.
It is important for individuals with hereditary hemochromatosis to reach out and seek support from these resources to better understand and manage their condition. These resources can also assist patients in connecting with others who are going through similar experiences and provide a sense of community and support.
Research Studies from ClinicalTrialsgov
Research studies on hereditary hemochromatosis, a rare genetic disorder, can be found on ClinicalTrialsgov. This platform provides valuable information and support for individuals and medical professionals interested in learning more about this condition.
Hereditary hemochromatosis is caused by mutations in the genes associated with iron metabolism. It is often inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to develop. The mutated genes result in the body absorbing and storing excessive amounts of iron, leading to iron overload in organs such as the liver.
ClinicalTrialsgov provides a catalog of research studies focused on hereditary hemochromatosis. These studies aim to investigate various aspects of the condition, including its causes, types, and frequency of inheritance. They also explore potential treatments and management strategies.
In addition to research studies, ClinicalTrialsgov offers resources such as articles and scientific references on hereditary hemochromatosis. These resources can be helpful for individuals seeking more information about the condition and its associated health risks.
Patient advocacy groups and genetic counseling centers often recommend genetic testing for hereditary hemochromatosis. Testing can help identify individuals who are at risk of developing iron overload and its associated complications. Genetic testing may involve analyzing specific genes such as HFE, HAMP, HJV, and TFR2. The results of genetic testing can inform medical management decisions and help prevent or minimize the impact of the condition.
It is important for individuals with hereditary hemochromatosis to work closely with their healthcare providers to manage their iron levels effectively. This may involve regular blood tests, therapeutic phlebotomy to remove excess iron from the body, and monitoring the impact of treatment on liver function and hormone levels.
By staying informed about the latest research and clinical trials, individuals with hereditary hemochromatosis can have a better understanding of their condition and access new treatment options. ClinicalTrialsgov provides a comprehensive platform for accessing information and resources related to hereditary hemochromatosis, making it a valuable tool for patients, healthcare professionals, and researchers alike.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a valuable resource for information about genes and diseases associated with hereditary hemochromatosis.
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that catalogues human genes and genetic disorders. It provides a wealth of information on the inheritance patterns, clinical features, and genetic mutations associated with various diseases.
Hereditary hemochromatosis is a rare genetic condition characterized by the excessive accumulation of iron in the body. It is often caused by mutations in certain genes, such as HFE, HJV, HAMP, and TFR2. These mutated genes disrupt the normal regulation of iron absorption, leading to iron overload in organs such as the liver.
The Catalog of Genes and Diseases from OMIM provides detailed information on these genes and their role in hereditary hemochromatosis. It includes references to scientific articles, clinical studies, and patient advocacy resources. This information can be helpful for healthcare providers, researchers, and patients who want to learn more about the condition.
In addition to information about genes, the catalog also provides information about other diseases that can be associated with hereditary hemochromatosis, such as heart disease, diabetes, and certain types of cancer. It also includes information on the frequency of these diseases in the population and the inheritance patterns.
The catalog can be accessed online at the OMIM website, and it is regularly updated with new research findings and discoveries. It is a valuable tool for anyone interested in understanding and studying hereditary hemochromatosis.
Scientific Articles on PubMed
Below are some resources and articles on Hereditary Hemochromatosis available on PubMed:
- PubMed – A comprehensive database that provides access to a wide range of scientific articles and research papers. It is a valuable resource for finding information about Hereditary Hemochromatosis and related topics.
- ClinicalTrials.gov – This website provides information about ongoing clinical trials related to Hereditary Hemochromatosis. It is a useful tool for staying updated on the latest research and developments in the field.
- OMIM – Online Mendelian Inheritance in Man – A catalog of genetic diseases and their associated genes. It provides detailed information about Hereditary Hemochromatosis, including its inheritance pattern and genetic mutations.
- Hereditary Hemochromatosis Patient Advocacy Organizations – These organizations offer support, resources, and information to patients and their families affected by Hereditary Hemochromatosis. They often have additional references and materials available on their websites.
- Hereditary Hemochromatosis Testing – Information about genetic testing for Hereditary Hemochromatosis, including the genes commonly involved and the frequency of testing among populations.
- Research Studies on Hereditary Hemochromatosis – Descriptions of ongoing research studies investigating the causes, diagnosis, and treatment of Hereditary Hemochromatosis.
- Genetic Mutations in Hereditary Hemochromatosis – An exploration of the various genes that are commonly mutated in individuals with Hereditary Hemochromatosis.
- Current Scientific Knowledge on Hereditary Hemochromatosis – A summary of the current understanding of Hereditary Hemochromatosis, including its associated symptoms, diagnosis, and management.
- Liver Diseases and Hereditary Hemochromatosis – The relationship between Hereditary Hemochromatosis and liver conditions, such as liver cirrhosis and liver cancer.
- Hormones and Hereditary Hemochromatosis – The influence of hormones on the development and progression of Hereditary Hemochromatosis.
- Gasparini Syndrome and Hereditary Hemochromatosis – The association between Gasparini Syndrome, a rare genetic disorder, and Hereditary Hemochromatosis.
By exploring these resources and articles, individuals can learn more about Hereditary Hemochromatosis, its causes, associated conditions, and current scientific advancements in its diagnosis and treatment.
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