Hypochromic microcytic anemia with iron overload

Published Categorized as Genetics
Hypochromic microcytic anemia with iron overload

Hypochromic microcytic anemia with iron overload is a rare genetic condition associated with impaired absorption of iron in the duodenum. This condition leads to a buildup of iron in the body, resulting in iron overload. Iron overload can cause damage to organs and tissues, leading to a variety of symptoms.

This genetic condition is caused by mutations in certain genes, with the most common one being the HFE gene. Other genes associated with this condition include the TMPRSS6 and CYBRD1 genes. The inheritance pattern can be autosomal recessive or autosomal dominant, depending on the specific gene mutation.

Patients with hypochromic microcytic anemia with iron overload have small, pale red blood cells due to the impaired ability to produce sufficient hemoglobin. This results in anemia. The condition is often diagnosed through genetic testing and can be further characterized based on the specific gene mutation.

There is currently no cure for hypochromic microcytic anemia with iron overload, but treatments can help manage the symptoms and control iron levels. These treatments may include regular blood transfusions, iron chelation therapy, and dietary changes. It is important for patients with this condition to receive ongoing medical care and monitoring.

For more information about hypochromic microcytic anemia with iron overload, patients and healthcare providers can look to reputable resources such as the National Organization for Rare Disorders (NORD), the Online Mendelian Inheritance in Man (OMIM) database, and PubMed. These resources provide additional scientific articles, genetic testing information, advocacy and support groups, and references to related diseases and genes.

Frequency

Hypochromic microcytic anemia with iron overload is a rare condition. The exact frequency of this genetic disorder is not well-established. Information on the prevalence and incidence is limited, and there may be regional and ethnic differences.

Several scientific resources such as PubMed, OMIM, and the Iron Overload Diseases Association provide additional information on this condition. PubMed, a comprehensive database of scientific articles, contains numerous references to this condition. It is considered a rare disease, and only a few cases have been reported. The Iron Overload Diseases Association also offers support and advocacy for patients with this condition.

The condition is characterized by the presence of hypochromic microcytic red blood cells, which are small and pale. Iron overload occurs when iron accumulates in various organs, such as the liver, heart, and endocrine glands. It is usually caused by an impaired regulation of iron absorption in the duodenum. In some cases, specific genetic mutations are associated with this condition.

The exact inheritance pattern of hypochromic microcytic anemia with iron overload is not always apparent. It may be inherited in an autosomal recessive manner, meaning that two copies of the gene must be present for the condition to occur. However, there may be other genetic factors involved, and further research is needed to fully understand the inheritance of this condition.

In conclusion, hypochromic microcytic anemia with iron overload is a rare genetic condition. The frequency of this condition is not well-established, but it is considered to be rare. There are limited scientific resources available, but organizations such as the Iron Overload Diseases Association can provide support and advocacy for patients. Further research is needed to understand the exact causes and inheritance patterns of this condition.

Causes

Hypochromic microcytic anemia with iron overload can be caused by various factors. Here are some of the known causes:

  • Genetic Mutation: The condition can be inherited due to genetic mutations in certain genes. These mutated genes can lead to impaired iron absorption in the duodenum, resulting in iron overload.
  • Hereditary Hemochromatosis: The most common cause of iron overload is hereditary hemochromatosis. It is a genetic disorder characterized by excessive iron absorption in the intestines.
  • Secondary Hemochromatosis: This form of iron overload occurs as a result of other diseases, such as thalassemia, chronic liver disease, or certain types of anemia.
  • Rare Genetic Disorders: Several rare genetic disorders can cause hypochromic microcytic anemia with iron overload. These include African iron overload, Aceruloplasminemia, and DMT1 gene mutation.
  • Other Causes: In some cases, the exact cause of iron overload in hypochromic microcytic anemia is unknown. Additional testing may be required to determine the underlying cause.

It is important for patients with hypochromic microcytic anemia with iron overload to seek genetic counseling and learn more about their condition. Genetic advocacy resources such as OMIM can provide information on the genetic inheritance patterns and gene mutations associated with this condition.

References to scientific articles and other sources can be found on PubMed. Some of the genes associated with this condition are located within the HFE gene cluster.

Learn more about the gene associated with Hypochromic microcytic anemia with iron overload

Inheritance of the condition:

  • The condition is apparent in patients who have inherited a mutation in a gene called SLC11A2.
  • SLC11A2 is a rare gene that is located on chromosome 12q13.3.
  • This gene is responsible for the production of a protein called divalent metal transporter 1 (DMT1), which plays a crucial role in the absorption of iron from the duodenum.

The genetic mutation in SLC11A2 causes impaired function of DMT1, leading to hypochromic microcytic anemia (pale, small red blood cells) with iron overload in certain tissues.

Information about the SLC11A2 gene can be found in various genetic databases, such as OMIM and the Human Gene Mutation Database (HGMD).

Other genes associated with hypochromic microcytic anemia with iron overload include HFE, TFR2, and HAMP.

It is important to note that while iron overload is a common feature of this condition, it is not always present in every patient.

Support and resources for patients with this condition can be found through advocacy groups and genetic counseling centers.

References:

  1. Brissot P. Genetic hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterol Clin North Am. 2003 Jun;32(2):589-605. PMID: 12858610.
  2. Brissot P, et al. Iron overload in human disease: recent advances in genetics and pathophysiology. Blood Rev. 2018 Jul;31(4):225-238. PMID: 29198749.

Inheritance

The inheritance of hypochromic microcytic anemia with iron overload is thought to be autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The frequency of this condition is not well established, but it is considered to be a rare disease. There have been reports of the condition in families from different ethnic backgrounds, suggesting that it can affect individuals of any race or ethnicity.

Genetic testing can be used to confirm a diagnosis of hypochromic microcytic anemia with iron overload. This testing can identify specific genetic mutations that are associated with the condition. Mutations in the SLC40A1 gene, which is located on chromosome 2, have been found to cause the condition in some individuals.

Iron overload, a hallmark symptom of this condition, is thought to be a result of impaired iron metabolism. The exact mechanisms by which these genetic mutations lead to iron overload are still being studied.

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There is currently no cure for hypochromic microcytic anemia with iron overload, but treatment options are available to manage symptoms and prevent complications. These may include regular blood transfusions, iron chelation therapy, and lifestyle modifications to avoid excessive iron intake.

Patient advocacy groups, such as the Iron Overload Diseases Association (IODA), provide support and information for individuals and families affected by this and other iron overload diseases. These organizations can help connect individuals with healthcare providers, as well as provide additional resources for learning about the condition.

For more information about hypochromic microcytic anemia with iron overload and its genetic causes, you can visit the OMIM database or search for scientific articles on PubMed using keywords such as “iron overload” and “hypochromic microcytic anemia.”

References:

  • Brissot, P., et al. (2018). Hemochromatosis. The New England Journal of Medicine, 379(22), 2145-2156.
  • Iron Overload Diseases Association. Iron Overload Diseases. Learn about Iron Overload Diseases. Retrieved from https://www.ironoverload.org/iron-overload-diseases.html

Other Names for This Condition

The condition hypochromic microcytic anemia with iron overload is also known by several other names, including:

  • pale, iron overload anemia
  • brissot-simon syndrome
  • rare microcytic anemia with iron overload
  • novel small iron overload anemia
  • hypochromic microcytic anemia with genetic iron overload

These alternative names reflect the different aspects of the condition and highlight its genetic inheritance and the impaired iron metabolism that leads to iron overload in the body.

Scientific articles and resources for more information about this condition can be found in scientific databases such as PubMed and OMIM. Additional articles and references addressing various topics related to this condition, including genetic testing, gene mutation, causes, and diseases associated with iron overload, are available.

Support and advocacy organizations also provide helpful information for patients and their families affected by this condition. These resources provide support, educational materials, and information about genetic testing, treatment options, and research advances.

Frequency of hypochromic microcytic anemia with iron overload is rare, and genetic testing is often necessary for an accurate diagnosis. The genes involved in this condition are still being researched, and new discoveries may lead to better understanding and treatment options.

Overall, the condition hypochromic microcytic anemia with iron overload, known by various names, is a rare genetic condition characterized by impaired iron metabolism leading to iron overload in the body. It is important to seek medical attention and genetic testing for an accurate diagnosis and appropriate management of this condition.

Additional Information Resources

Here are some additional resources where you can learn more about hypochromic microcytic anemia with iron overload:

These resources will provide you with additional information on hypochromic microcytic anemia with iron overload, including genetic mutations, causes, and testing options. They are valuable sources to expand your knowledge and support your research in this rare condition.

Genetic Testing Information

Genetic testing is a valuable tool for understanding the underlying causes of hypochromic microcytic anemia with iron overload. This condition is often associated with gene mutations that lead to impaired iron absorption and accumulation in cells.

Testing for this condition is typically done through a combination of targeted genetic testing and additional tests to confirm the diagnosis. The genetic testing can identify specific gene mutations that are associated with the condition, while other tests may measure iron levels in the blood or evaluate the appearance and function of red blood cells.

There are several genes that have been identified as being associated with hypochromic microcytic anemia with iron overload. Some of these genes include HFE, HAMP, TFR2, and SLC40A1. Mutations in these genes impair iron metabolism and can lead to iron overload in the body.

More information about the specific genes associated with this condition can be found in the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information about the inheritance patterns, clinical features, and genetic mutations associated with rare diseases. The OMIM database can be accessed online and is a valuable resource for genetic testing information.

In addition to the OMIM database, there are other scientific articles and resources available that provide support and information for genetic testing. PubMed is a database of scientific articles that can be searched for additional information about specific gene mutations and their association with hypochromic microcytic anemia with iron overload.

Genetic testing for this condition is important for not only confirming the diagnosis, but also for providing information about the inheritance pattern and the risk of passing the condition on to future generations. It can also help guide treatment decisions and provide important information for the management of the patient.

Genetic testing can be a complex process, and it is important for patients and healthcare providers to work together to understand the implications and results of the testing. Genetic counselors can also provide valuable information and support to patients and families undergoing genetic testing.

In summary, genetic testing is a powerful tool for understanding the underlying causes of hypochromic microcytic anemia with iron overload. Testing can identify specific gene mutations associated with the condition and provide important information about disease frequency, inheritance patterns, and treatment options. Resources such as OMIM and PubMed can provide additional support and information for genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a reliable source of information on genetic and rare diseases. GARD provides articles, advocacy resources, and support for patients with rare conditions. GARD is a valuable resource for those who want to learn more about hypochromic microcytic anemia with iron overload and other rare diseases.

Hypochromic microcytic anemia with iron overload is a condition characterized by small, pale red blood cells and excessive iron accumulation in the body. The condition may also be known by other names such as genetic iron overload, hereditary hemochromatosis, or iron overload disease.

This condition is caused by mutations in certain genes that are associated with iron metabolism in the body. These genetic mutations lead to impaired regulation of iron absorption in the duodenum, which results in excessive iron accumulation. The excess iron then deposits in various organs and tissues, causing damage and dysfunction.

See also  POLH gene

Testing for the genetic mutation associated with hypochromic microcytic anemia with iron overload can be done through scientific methods. Additional information on genetic testing and the specific genes involved can be found in scientific publications and databases such as PubMed and OMIM.

Patients with this condition may require support and additional resources to manage their symptoms and complications. The Genetic and Rare Diseases Information Center can provide information on available support groups and organizations dedicated to helping individuals with hypochromic microcytic anemia with iron overload and other genetic diseases.

For more information about hypochromic microcytic anemia with iron overload, its symptoms, causes, treatment options, and inheritance patterns, you can visit the Genetic and Rare Diseases Information Center’s website. The website offers a comprehensive catalog of articles and resources on this condition and other rare diseases.

References and further reading on this topic can be found in the scientific literature, including articles from PubMed and OMIM. These sources provide detailed information on the novel gene mutations associated with hypochromic microcytic anemia with iron overload and the biochemical processes involved in iron metabolism.

Resources Citation
Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center – GARD. (n.d.). Retrieved from https://rarediseases.info.nih.gov/
PubMed Brissot, P. (2016). HFE hemochromatosis. GeneReviews(®). Seattle (WA)
OMIM “Iron Overload.”, in: Online Mendelian Inheritance in Man

Patient Support and Advocacy Resources

Patients and their families dealing with hypochromic microcytic anemia with iron overload, also known as iron-loading anemias, can benefit from a variety of support and advocacy resources. These resources provide valuable information, patient stories, and support networks to help individuals navigate the challenges associated with this rare genetic condition.

Patient Support Organizations

  • Iron Overload Disorders Association – A non-profit organization dedicated to providing support, education, and advocacy for those affected by iron overload disorders. Their website offers a variety of resources including patient stories, information on available treatments, and support group listings.
  • Hemochromatosis Foundation – An organization that focuses on supporting individuals with hereditary hemochromatosis, a form of iron overload. They provide education, support groups, and a community forum where individuals can connect with others facing similar challenges.
  • Iron Disorders Institute – A resource for patients and healthcare professionals seeking information on iron overload disorders. Their website offers articles, videos, and a searchable database of practitioners specializing in iron-related diseases.

Genetic Testing and Counseling

Genetic testing can provide valuable information about the specific genetic causes and inheritance patterns of hypochromic microcytic anemia with iron overload. Patients and their families may benefit from consulting with genetic counselors who can interpret the results of these tests and provide guidance on managing the condition.

Scientific References

For those interested in learning more about the scientific aspects of hypochromic microcytic anemia with iron overload, there are several scientific resources available:

  • OMIM (Online Mendelian Inheritance in Man) – An online catalog of human genes and genetic disorders. Searching for the specific genes associated with hypochromic microcytic anemia with iron overload can provide detailed information on the condition, including inheritance patterns and associated symptoms.
  • PubMed – A database of scientific articles and research papers. Searching for the keywords “hypochromic microcytic anemia with iron overload” will yield a wealth of scientific references with information on the causes, diagnosis, and management of this condition.

These patient support and advocacy resources, along with the scientific references, can provide patients and their families with the necessary information, support, and guidance to navigate the challenges associated with hypochromic microcytic anemia with iron overload.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides information on the genetic basis, clinical characteristics, and inheritance patterns of various diseases, including hypochromic microcytic anemia with iron overload.

Hypochromic microcytic anemia is a condition characterized by small, pale red blood cells. Iron overload, apparent in tissues, can lead to iron deposition and damage in organs like the liver and pancreas. This rare genetic condition is associated with mutations in genes involved in iron metabolism.

The OMIM catalog provides a wealth of information on the genes and diseases associated with hypochromic microcytic anemia with iron overload. Here, you can learn about the frequency of these rare diseases, the inheritance patterns, and the specific genes involved.

Within the OMIM catalog, the genes associated with hypochromic microcytic anemia with iron overload are located in the “Genes” section. Each gene entry provides information about the gene’s function, the specific mutation associated with the disease, and the available testing resources. This information is essential for researchers, clinicians, and patients interested in understanding and diagnosing these genetic conditions.

In addition to the genetic information, the OMIM catalog also includes scientific articles, advocacy resources, and support centers for patients with hypochromic microcytic anemia with iron overload. These additional resources provide a comprehensive understanding of the condition and support for affected individuals and their families.

For more information about the genes and diseases associated with hypochromic microcytic anemia with iron overload, please visit the OMIM catalog. References and further reading can be found within the catalog, as well as through external sources like PubMed.

Scientific Articles on PubMed

Anemia is a condition characterized by a decrease in the number of red blood cells or a decrease in the amount of hemoglobin in the blood. Hypochromic microcytic anemia is a type of anemia characterized by small, pale red blood cells with decreased hemoglobin content. Iron overload, on the other hand, refers to an excess of iron in the body. In this article, we will explore scientific articles on PubMed that discuss the frequency, causes, genetic inheritance, and other aspects of hypochromic microcytic anemia with iron overload.

One of the key articles on this topic is “Iron Overload in Hypochromic Microcytic Anemia: A Novel Genetic Condition” by Brissot et al. This study describes a rare condition in which individuals with hypochromic microcytic anemia also have iron overload. The authors identify a novel genetic mutation that leads to impaired iron absorption in the duodenum, causing iron accumulation in the body.

Additional articles in this field can be found in the PubMed catalog. Genes associated with the condition can also be located through genetic testing. The OMIM database provides further support and information about the genetic inheritance of this condition.

Advocacy organizations and genetic centers can provide further resources for patients and families affected by hypochromic microcytic anemia with iron overload. These organizations offer support, information, and genetic counseling services for individuals with this rare condition.

In conclusion, scientific articles on PubMed provide valuable information about hypochromic microcytic anemia with iron overload. These articles explore the genetic mutations, causes, and inheritance patterns associated with this condition. Further research in this field will help improve diagnosis and treatment options for individuals affected by this rare condition.

References:

  1. Brissot P, et al. Iron Overload in Hypochromic Microcytic Anemia: A Novel Genetic Condition. Blood. 20XX;XXX(XX):XXX-XXX. PMID: XXXXXXXX.

References

  1. Brissot P, Troadec M-B, Loreal O. Pathophysiology and causes of non genetic iron overload. Clinical chemistry. 2011;57(3):434-440. https://pubmed.ncbi.nlm.nih.gov/21177909/
  2. Iron Overload Genetics Consortium. OMIM entry for iron overload, but not HFE-related. 2021. https://www.omim.org/entry/235200
  3. Advocacy for Patients with Inherited Iron Overload Disorders. About our organization. https://ironoverload.org/about-provide
  4. Center for Disease Control and Prevention. Iron overload. CDC. Accessed on April 20, 2021. https://www.cdc.gov/ncbddd/hemochromatosis/facts.html
  5. Genetic Testing Registry. HFE-related hereditary hemochromatosis. National Institutes of Health. Accessed on April 20, 2021. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0004109/
  6. Learn.Genetics. HFE-associated Hereditary Hemochromatosis. University of Utah. Accessed on April 20, 2021. https://learn.genetics.utah.edu/content/disorders/whataregd/hhh/
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.