Iron-refractory iron deficiency anemia, a rare genetic condition, is associated with a deficiency of iron in the bloodstream. This article describes the central features, inheritance, and frequency of iron-refractory iron deficiency anemia. It also supports the need for more research and advocacy in this area.

Iron-refractory iron deficiency anemia is described as a rare condition that leads to a deficiency of iron in the body’s tissues. It is associated with genetic inheritance and is often not responsive to traditional iron supplementation. The rare frequency of this condition makes it a topic of scientific interest and ongoing studies.

More information about iron-refractory iron deficiency anemia can be found in scientific articles and research studies. The OMIM (Online Mendelian Inheritance in Man) database and the PubMed catalog provide additional resources for learning about this condition. ClinicalTrials.gov may also support ongoing clinical trials and testing associated with iron-refractory iron deficiency anemia.

Other genetic diseases and conditions associated with iron deficiency in the bloodstream are also described in related articles and references. This article aims to provide a comprehensive overview of iron-refractory iron deficiency anemia, its causes, and associated genetic factors.

Frequency

Iron-refractory iron deficiency anemia is a rare genetic condition associated with mutations in the TMPRSS6 gene. It is estimated to occur in less than 1 in 1,000,000 individuals worldwide.

According to the Iron Disorders Institute, this condition is thought to be inherited in an autosomal recessive manner, which means that both copies of the TMPRSS6 gene must be mutated for an individual to develop the condition. Individuals who inherit only one mutated copy of the gene are carriers and do not typically experience symptoms of iron-refractory iron deficiency anemia.

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There are currently no population-based studies on the frequency of iron-refractory iron deficiency anemia. However, several case reports and clinical studies have described individuals with this condition in scientific articles, such as those found on PubMed.

Genetic testing can be used to confirm a diagnosis of iron-refractory iron deficiency anemia. Testing may be done to identify mutations in the TMPRSS6 gene or other genes associated with iron metabolism. This information can provide important genetic counseling and management recommendations for patients and their families.

The Iron Disorders Institute provides support and advocacy for individuals with iron-refractory iron deficiency anemia and other iron-related conditions. The organization has a patient support center that can provide information and resources, including information on genetic testing and research leads.

Additional resources for learning more about iron-refractory iron deficiency anemia and genetic testing include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genes, genetic disorders, and associated clinical features. ClinicalTrials.gov may also have information on current research studies related to the condition.

Iron-refractory iron deficiency anemia is just one rare cause of iron deficiency. There are many other diseases and conditions that can lead to iron deficiency. If you or someone you know is experiencing iron deficiency, it is important to consult with a healthcare professional for evaluation and appropriate management.

Causes

Iron-refractory iron deficiency anemia (IRIDA) is a rare genetic disorder characterized by a deficiency of iron in the bloodstream. It is caused by mutations in certain genes that lead to a decreased ability to absorb and transport iron in the body.

Several genes have been associated with IRIDA, including TMPRSS6, TMPRSS7, CYBRD1, and CP. These genes play important roles in iron metabolism and are involved in the regulation of iron absorption in the intestines and its transport in the bloodstream.

IRIDA is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. The frequency of IRIDA in the general population is unknown, but it is considered to be a rare condition.

Iron-refractory iron deficiency anemia can also be caused by additional factors, such as chronic diseases or certain medications that interfere with iron absorption or utilization. However, these cases are less common and usually occur in individuals without a genetic predisposition.

Diagnosis of IRIDA can be confirmed through genetic testing, which can identify mutations in the associated genes. This testing is typically performed in specialized laboratories or genetic testing centers.

For more information about IRIDA, its causes, and genetic testing, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. These websites provide comprehensive information about rare genetic diseases, including IRIDA, and offer resources for patients, families, and healthcare providers.

Research studies and clinical trials are ongoing to learn more about the causes and treatment of IRIDA. Scientific articles published in PubMed and clinicaltrialsgov can provide more information about the latest research advancements in this field.

In summary, IRIDA is a rare genetic disorder characterized by iron deficiency anemia. It is caused by mutations in genes involved in iron metabolism. Additional factors, such as chronic diseases or medications, can also contribute to the development of iron-refractory iron deficiency anemia in some individuals. Genetic testing is available to confirm the diagnosis of IRIDA, and resources such as OMIM and the Genetic and Rare Diseases Information Center can provide support and information for those affected by this condition.

Learn more about the gene associated with Iron-refractory iron deficiency anemia

Iron-refractory iron deficiency anemia is a rare condition characterized by a deficiency of iron in the bloodstream. It is caused by mutations in certain genes that are involved in the transport and regulation of iron in the body.

One of the genes associated with this condition is called TMPRSS6. The TMPRSS6 gene provides instructions for making a protein called matriptase-2, which is involved in the regulation of iron levels in the body. Mutations in this gene can lead to a decrease in the production or function of matriptase-2, resulting in iron-refractory iron deficiency anemia.

Scientists have described several different mutations in the TMPRSS6 gene that are associated with iron-refractory iron deficiency anemia. These mutations can be categorized into two general types: missense mutations, which change a single DNA building block (nucleotide) in the gene sequence, and deletion mutations, which remove a small piece of DNA from the gene.

To support the diagnosis of iron-refractory iron deficiency anemia, genetic testing can be performed to detect mutations in the TMPRSS6 gene. This testing can be done using a variety of methods, including sequencing the gene to identify specific mutations or using targeted genetic testing for known mutations.

The frequency of TMPRSS6 gene mutations varies among different populations. It is more commonly found in individuals of Northern European ancestry, but can also be found in other populations.

Learning more about the TMPRSS6 gene and its associated mutations can help researchers and healthcare professionals better understand the causes and mechanisms of iron-refractory iron deficiency anemia. This information can lead to improved diagnostic testing, genetic counseling, and potential targeted treatments for individuals with this condition.

For additional information about this rare condition and the genes associated with it, you can refer to the following resources:

• The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information about iron-refractory iron deficiency anemia and other rare diseases.
• The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetics and characteristics of iron-refractory iron deficiency anemia.
• The National Center for Biotechnology Information’s PubMed database offers a wealth of scientific articles and research studies on iron-refractory iron deficiency anemia and related topics.
• The ClinicalTrials.gov website provides information on current and upcoming clinical trials that are investigating potential treatment options for iron-refractory iron deficiency anemia.
• Iron Disorders Institute and iron-refractory iron deficiency anemia advocacy organizations may also have additional resources and support for individuals and families affected by this condition.
• References to other articles and studies can be found within these resources, which can provide further insight into the genetic and clinical aspects of iron-refractory iron deficiency anemia.

Inheritance

Iron-refractory iron deficiency anemia is a genetic condition. It is caused by mutations in certain genes that are associated with iron metabolism and red blood cell production.

The genetic mutations involved in iron-refractory iron deficiency anemia have been described in scientific studies. These mutations can lead to abnormalities in the function of genes that are important for the production of hemoglobin, the protein that carries oxygen in red blood cells.

Inheritance of iron-refractory iron deficiency anemia can occur in an autosomal recessive or autosomal dominant pattern. In autosomal recessive inheritance, both copies of the gene involved in the condition must have mutations for a person to be affected. In autosomal dominant inheritance, a mutation in only one copy of the gene is sufficient to cause the condition.

Iron-refractory iron deficiency anemia is a rare condition, and not much is known about its frequency or prevalence. However, it is thought to be more common in certain populations and ethnic groups.

Genetic testing can be done to identify the specific genetic mutations associated with iron-refractory iron deficiency anemia. This type of testing can be useful for confirming a diagnosis, identifying carriers of the condition, and providing information about the inheritance pattern of the condition.

In addition to genetic testing, other tests such as blood tests and iron studies may be performed to evaluate iron levels and rule out other causes of iron deficiency anemia.

Further research is needed to better understand the genetic causes of iron-refractory iron deficiency anemia and to develop more effective treatment options for this condition.

For more information about iron-refractory iron deficiency anemia and other related diseases, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles on PubMed can be helpful.

Patient advocacy groups and support organizations can also provide central information and support for patients and their families affected by iron-refractory iron deficiency anemia.

Additionally, clinicaltrials.gov is a useful resource for finding information on clinical trials and research studies on iron-refractory iron deficiency anemia, as well as information on participating in these studies.

Other Names for This Condition

Iron-refractory iron deficiency anemia is also known by the following names:

• Hereditary iron-refractory iron deficiency anemia (IRIDA)
• Hereditary hypochromic microcytic anemia with iron-refractory iron deficiency
• Iron-refractory iron deficiency anemia of genetic origin
• Iron-refractory iron deficiency anemia due to a defect in iron transport

The condition was first described in the scientific literature in the year 2000. Since then, various studies and research articles have been published to learn more about this rare form of anemia. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic diseases. It provides an extensive catalog of genes and genetic conditions, including IRIDA. Further information can also be found in articles from PubMed, a repository of scientific papers. The National Center for Biotechnology Information (NCBI) provides additional resources and leads to learn more about the condition. Support and advocacy organizations such as the Iron Disorders Institute offer information and support for patients with iron-refractory iron deficiency anemia. ClinicalTrials.gov may also have information on clinical trials and genetic testing associated with this condition.

Genetic testing can help identify the gene mutation or defect that causes IRIDA. The frequency of this condition is unknown, but it is considered to be rare. In addition to the known genetic causes, other genes may also be associated with the development of IRIDA. Testing for iron-refractory iron deficiency anemia is typically done using blood tests to assess iron levels and other components in the bloodstream. It is important for individuals with symptoms of iron deficiency anemia to seek medical evaluation and testing to accurately diagnose and manage the condition.

Additional Information Resources

Iron-refractory iron deficiency anemia is a rare condition that affects the production of red blood cells, leading to anemia. It is usually inherited in a rare genetic form.

For more information on iron-refractory iron deficiency anemia, you can visit the following resources:

• Genetic Testing: Genetic testing can be done to identify the specific genes associated with iron-refractory iron deficiency anemia. This can provide valuable information about the condition and its inheritance. You can learn more about genetic testing for iron-refractory iron deficiency anemia from scientific articles and studies.
• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical studies and trials. You can search for ongoing or completed studies related to iron-refractory iron deficiency anemia to learn more about the condition and the latest research and treatment options.
• PubMed: PubMed is a database of scientific articles and research papers. You can search for articles on iron-refractory iron deficiency anemia to find more information about the causes, symptoms, diagnosis, and treatment of this condition.
• Iron Disorders Institute: The Iron Disorders Institute is an advocacy and support center for patients with iron-related conditions, including iron-refractory iron deficiency anemia. Their website provides information about the causes, symptoms, diagnosis, and management of iron-refractory iron deficiency anemia.
• Iron-Refactory Iron Deficiency Anemia Catalog: The Iron-Refactory Iron Deficiency Anemia Catalog is a centralized resource that provides information about the different genes associated with iron-refractory iron deficiency anemia. It includes the names of the genes, their frequency of occurrence, and references to scientific studies and articles.
• Other Resources: You can also find additional information and support on iron-refractory iron deficiency anemia from other sources like patient support groups, medical centers specializing in hematological disorders, and online forums or communities focused on rare diseases.

By exploring these resources, you can gain a deeper understanding of iron-refractory iron deficiency anemia, its genetic causes, clinical presentations, and available testing and treatment options.

Genetic Testing Information

Iron-refractory iron deficiency anemia is a rare genetic condition associated with iron deficiency. It is caused by mutations in the TMPRSS6 gene, which leads to impaired iron absorption from the bloodstream. This condition is characterized by severe iron deficiency anemia that does not respond to traditional iron supplementation.

Genetic testing can be used to confirm a diagnosis of iron-refractory iron deficiency anemia. This testing identifies mutations in the TMPRSS6 gene that are associated with the condition. Genetic testing can also provide additional information about the inheritance pattern of iron-refractory iron deficiency anemia and the frequency of mutations in the general population.

Genetic testing for iron-refractory iron deficiency anemia can be performed by a medical geneticist or other healthcare professionals with expertise in genetic testing. It involves analyzing the patient’s DNA for mutations in the TMPRSS6 gene. The results of genetic testing can help guide patient management and provide information about the prognosis of the condition.

Additional resources for genetic testing and support include the Genetic Testing Registry, which provides information about available genetic tests and laboratories that offer them, and the Online Mendelian Inheritance in Man (OMIM) database, which catalogues genes and genetic diseases and provides references to scientific articles and other resources.

Scientific articles and studies on iron-refractory iron deficiency anemia can be found in PubMed, a database of biomedical literature, and clinicaltrials.gov, which provides information about ongoing research studies. These resources can provide more information about the genetic causes and associated conditions of iron-refractory iron deficiency anemia.

Learn more about genetic testing and iron-refractory iron deficiency anemia by exploring these resources and seeking support from the medical community.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Institutes of Health (NIH). GARD aims to address the needs of patients and their families, healthcare professionals, and advocacy organizations by providing reliable and up-to-date information on genetic and rare diseases.

GARD provides information on a wide range of rare diseases, including Iron-refractory iron deficiency anemia. This condition is characterized by a deficiency of iron in the bloodstream due to mutations in genes associated with iron metabolism. Iron-refractory iron deficiency anemia leads to decreased production of red blood cells and can cause symptoms such as fatigue, weakness, and shortness of breath.

GARD offers information on the causes, symptoms, inheritance patterns, and frequency of Iron-refractory iron deficiency anemia, as well as additional resources for patients and their families. These resources include links to clinical trials, research studies, scientific articles, and other information related to the condition. GARD also provides information on genetic testing and counseling for individuals with suspected or confirmed Iron-refractory iron deficiency anemia.

For more information on Iron-refractory iron deficiency anemia, interested individuals can visit the GARD website and search for the condition using the OMIM or HPO code. The GARD website provides references to scientific articles, clinical studies, and other resources that offer further information on the condition.

GARD aims to serve as a central resource for information on rare diseases and provides support to patients, families, healthcare professionals, and advocacy organizations. Through its comprehensive catalog of rare diseases, GARD helps individuals learn more about these conditions and access relevant resources and support.

Patient Support and Advocacy Resources

If you or someone you know has iron-refractory iron deficiency anemia, it is important to have access to support and advocacy resources. These resources can provide valuable information and assistance for individuals affected by this rare genetic condition.

One of the main resources for patients and their families is the Iron-Refractory Iron Deficiency Anemia Research Center. This center conducts scientific research to learn more about the causes and inheritance of this condition, as well as developing new treatments and testing methods.

The center provides additional information about iron-refractory iron deficiency anemia, including how it affects the body’s tissues and bloodstream and associated genes. They also offer genetic testing for individuals who suspect they may have the condition.

For patient support and advocacy, there are several organizations that can provide assistance. Some of these organizations include:

• Iron Disorders Institute: This organization offers resources, support groups, and educational materials for individuals affected by iron-related disorders, including iron-refractory iron deficiency anemia.
• Rare Diseases Network: This network connects individuals with rare genetic conditions, providing support, advocacy, and the opportunity to participate in research studies.
• Genetic and Rare Diseases Information Center (GARD): GARD offers reliable information about rare genetic conditions, including iron-refractory iron deficiency anemia. They also provide assistance in finding clinical trials and specialists.
• Iron Disorders Institute: This organization offers resources, support groups, and educational materials for individuals affected by iron-related disorders, including iron-refractory iron deficiency anemia.

In addition to these advocacy resources, there are scientific articles and references available for further learning. PubMed and OMIM are databases that contain articles and studies on a wide range of genetic diseases, including iron-refractory iron deficiency anemia. These databases can provide more information on the condition, its symptoms, and potential treatments.

By accessing patient support and advocacy resources, individuals affected by iron-refractory iron deficiency anemia can find the information, support, and assistance they need to navigate their condition.

Research Studies from ClinicalTrialsgov

If you are looking for more information about iron-refractory iron deficiency anemia, there are several research studies available on ClinicalTrialsgov. These studies provide valuable information, support, and testing for this rare condition.

One aspect of the research focuses on the genetic causes of iron-refractory iron deficiency anemia. Genetic testing helps identify the specific genes that are associated with this condition. By learning more about these genes, scientists can better understand the causes of the disease.

Scientific articles on this topic describe patient cases and provide references to additional resources. These articles can be found on PubMed and other scientific databases. They offer detailed information on the frequency, inheritance patterns, and other characteristics of iron-refractory iron deficiency anemia.

In addition to genetic studies, researchers also investigate the role of iron in the bloodstream and tissues. They explore how deficiency in iron leads to anemia and the associated symptoms. These studies contribute to a better understanding of the condition and may lead to new treatment options.

The Center for Iron-Refractory Iron Deficiency Anemia is a valuable resource for patients and their families. It provides information about the condition, research studies, and advocacy resources. The center also maintains a catalog of genes associated with iron-refractory iron deficiency anemia, called OMIM.

If you or someone you know is affected by iron-refractory iron deficiency anemia, it is important to stay informed about the latest research studies. ClinicalTrialsgov is an excellent platform to find ongoing and completed studies related to this rare condition. Keep up-to-date with the latest advancements in the field and learn about potential treatment options.

• ClinicalTrialsgov
• PubMed
• OMIM
• Center for Iron-Refractory Iron Deficiency Anemia

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with iron-refractory iron deficiency anemia. This rare condition leads to low levels of iron in the bloodstream, which causes anemia. Iron-refractory iron deficiency anemia is described in detail on the OMIM website and has been studied extensively.

The catalog includes information about the genes that are associated with this condition, as well as other names and inheritance patterns. It also provides articles, scientific references, and resources for further research and testing. The OMIM database is a valuable resource for clinicians, researchers, and advocacy organizations working with patients with iron-refractory iron deficiency anemia.

Through the catalog, you can learn more about the genes that are associated with iron-refractory iron deficiency anemia, their frequency in the population, and what causes this condition. The catalog also provides links to additional articles and resources for further reading.

For more information on iron-refractory iron-deficiency anemia, you can visit the OMIM website or contact the National Institutes of Health’s OMIM center. The OMIM website also provides links to PubMed articles, clinicaltrialsgov studies, and other resources for genetic testing and research.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for understanding the genetic basis of iron-refractory iron deficiency anemia and supporting research efforts in this field.

Scientific Articles on PubMed

In this section, we will explore some of the scientific articles related to Iron-refractory iron deficiency anemia. This rare genetic condition leads to a deficiency in iron, and it cannot be effectively treated with iron supplementation.

The center of research for this condition is the OMIM database (Online Mendelian Inheritance in Man), which provides valuable information about the genetic basis of diseases. The OMIM catalog lists the names of genes associated with iron-refractory iron deficiency anemia, as well as references to scientific articles and clinical trials related to this condition.

Genetic Inheritance

Iron-refractory iron deficiency anemia has a genetic basis, with mutations in specific genes leading to the development of the condition. Studies have described several genes involved in the pathogenesis of iron-refractory iron deficiency anemia, including TMPRSS6 and CYBRD1.

Clinical Trials and Research

Research on the treatment and management of iron-refractory iron deficiency anemia is ongoing. Clinical trials registered on ClinicalTrials.gov provide valuable information about current studies aimed at finding potential treatments for this condition.

Scientific articles published on PubMed also contribute to the understanding of iron-refractory iron deficiency anemia. These articles discuss the clinical features and laboratory testing methods for diagnosing the condition, as well as explore the genetic causes and associated diseases.

Resources and Support

For patients and families affected by iron-refractory iron deficiency anemia, various resources and support networks are available. Advocacy groups and organizations dedicated to rare diseases can provide information, support, and resources to help individuals navigate their condition.

Further information about iron-refractory iron deficiency anemia can be found on the OMIM website, PubMed database, and other reliable sources. These resources can help patients, healthcare professionals, and researchers learn more about this rare genetic condition and its management.

References

• Anemia: Iron-refractory iron deficiency anemia.
• About the condition: Iron-refractory iron deficiency anemia is a rare genetic disorder characterized by the inability of the body to absorb iron from the bloodstream, leading to severe iron deficiency anemia.
• Causes: The condition is caused by mutations in certain genes associated with iron metabolism.
• Symptoms: Symptoms of iron-refractory iron deficiency anemia include fatigue, weakness, shortness of breath, pale skin, and brittle nails.
• Testing and diagnosis: Diagnosis of iron-refractory iron deficiency anemia involves additional testing to rule out other causes of anemia and genetic testing to detect mutations in relevant genes. Blood tests may also be conducted to measure iron levels in the body.
• Further research: Further research is needed to understand the genetic mechanisms involved in iron-refractory iron deficiency anemia and develop effective treatments.
• Resources for patients: Patients can learn more about iron-refractory iron deficiency anemia from advocacy organizations and online resources such as OMIM (Online Mendelian Inheritance in Man).
• Scientific articles: Scientific articles describing iron-refractory iron deficiency anemia can be found on PubMed, a database of biomedical literature.
• Clinical trials: Clinical trials for iron-refractory iron deficiency anemia may be available on ClinicalTrials.gov.
• Associated diseases: Iron-refractory iron deficiency anemia is associated with other rare genetic diseases related to iron metabolism.
• Genetic inheritance: The condition follows an autosomal recessive inheritance pattern, meaning that both parents must carry the mutated gene for their child to be affected.
• References: For more information, please refer to the following references and articles:

1. Iron-refractory iron deficiency anemia: additional references and information can be found in this article.
2. Iron-refractory iron deficiency anemia: clinical features and genetic studies.
3. Gene catalog: a resource for iron-refractory iron deficiency anemia and associated genetic disorders.