Glanzmann thrombasthenia is a rare inherited bleeding disorder that affects the normal clotting of blood. It is caused by genetic deficiency of the glycoprotein complex, composed of integrin alpha-IIb and integrin beta-3, within the platelet membrane. The condition is named after the Swiss physician Eduard Glanzmann, who first described it in 1918.

People with Glanzmann thrombasthenia have platelets that do not function properly. Platelets are small blood cells that help in the clotting process, but in Glanzmann thrombasthenia, platelets are unable to form strong aggregates to stop bleeding. This can lead to severe bleeding episodes, such as nosebleeds, bruising, gastrointestinal bleeding, and heavy menstrual bleeding.

The inheritance of Glanzmann thrombasthenia is autosomal recessive, which means that both parents must pass on a copy of the mutated gene for the condition to occur. The disease is extremely rare, with an estimated frequency of less than 1 in 1 million people. Glanzmann thrombasthenia has been associated with mutations in the ITGB3 and ITGA2B genes.

Diagnosis of Glanzmann thrombasthenia is based on clinical symptoms, blood testing, and genetic testing. Additional studies, such as platelet aggregation studies and flow cytometry, may also be done to confirm the diagnosis. Treatment for Glanzmann thrombasthenia is supportive and includes transfusions of platelets or concentrated platelet products.

For more information about Glanzmann thrombasthenia, clinicaltrialsgov, OMIM, and PubMed are valuable resources. These websites provide articles, references, and clinical trials related to this condition. Patient advocacy and support groups, such as the Glanzmann Thrombasthenia Advocacy & Scientific Research Center, also offer information and support for individuals with Glanzmann thrombasthenia.

Frequency

Glanzmann thrombasthenia is a rare, hereditary condition caused by a deficiency or genetic mutation in the genes ITGA2B and ITGB3. It is estimated to occur in less than 1 in 1 million people worldwide.

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According to research, the frequency of Glanzmann thrombasthenia varies within different populations. In some populations, the condition is extremely rare, while in others it may occur more frequently. The frequency of Glanzmann thrombasthenia can also vary within families, with some individuals inheriting the genetic mutation and others not.

More information about the frequency of Glanzmann thrombasthenia can be found on the OMIM database and other scientific resources. ClinicalTrials.gov is also a valuable resource for learning about ongoing research studies and clinical trials related to Glanzmann thrombasthenia.

Testing for Glanzmann thrombasthenia involves analyzing the glycoprotein genes ITGA2B and ITGB3 for mutations or deficiencies. Genetic testing can help confirm a diagnosis and provide additional information about the genetic causes of the condition.

Support and advocacy organizations can provide additional information about Glanzmann thrombasthenia, including resources for patients and their families. These organizations can also help connect individuals with clinical trials, genetic testing centers, and other specialized medical resources.

References:

  1. “Glanzmann Thrombasthenia.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia.
  2. “Glanzmann Thrombasthenia.” OMIM, Johns Hopkins University, omim.org/entry/273800.
  3. “Glanzmann Thrombasthenia.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=Glanzmann+Thrombasthenia.
  4. “Glanzmann Thrombasthenia.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=Glanzmann+thrombasthenia.
  5. “Glanzmann Thrombasthenia.” American Society of Hematology, hematology.org/education/patients/blood-disorders/thrombasthenia

Causes

Glanzmann thrombasthenia is a rare genetic condition caused by a deficiency of glycoprotein IIb/IIIa (also known as integrin αIIbβ3), which is a receptor involved in platelet aggregation. This condition is usually inherited in an autosomal recessive manner.

Glanzmann thrombasthenia is caused by mutations in the ITGA2B and ITGB3 genes. These genes provide instructions for making the αIIb and β3 subunits of the integrin αIIbβ3 receptor, respectively. Mutations in either of these genes can result in a dysfunctional or nonfunctional receptor, preventing proper platelet aggregation.

The frequency of Glanzmann thrombasthenia varies among different populations, but it is estimated to occur in about 1 in every 1 million people worldwide. The ITGA2B gene mutations are more common, accounting for approximately 70 percent of cases, while mutations in the ITGB3 gene are less common.

Genetic testing can be done to confirm a diagnosis of Glanzmann thrombasthenia. Additional tests can also be done to identify the specific mutations in the ITGA2B and ITGB3 genes. These tests can help determine the best course of treatment and provide important information for genetic counseling.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance patterns of Glanzmann thrombasthenia, as well as to develop new treatment options. The ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) databases provide additional information on ongoing studies and genetic conditions associated with Glanzmann thrombasthenia.

In addition to genetic testing and research, there are resources available to support patients and families affected by Glanzmann thrombasthenia. The Glanzmann Thrombasthenia Center of Excellence and the Platelet Disorder Support Association provide information and support for individuals living with this condition. Scientific articles and publications can also be found through PubMed and other scientific databases.

Learn more about the genes associated with Glanzmann thrombasthenia

Glanzmann thrombasthenia is a rare hereditary blood disorder that is caused by a deficiency of glycoprotein IIb/IIIa. This glycoprotein is essential for the normal function of platelets, which are responsible for blood clotting.

There are two genes that have been associated with Glanzmann thrombasthenia:

  • ITGA2B: Also known as integrin alpha 2b, this gene provides instructions for making the alpha subunit of the glycoprotein IIb/IIIa. Mutations in this gene can cause the glycoprotein to be less effective or absent, leading to the symptoms of Glanzmann thrombasthenia.
  • ITGB3: Also known as integrin beta 3, this gene provides instructions for making the beta subunit of the glycoprotein IIb/IIIa. Mutations in this gene can also cause the glycoprotein to be less effective or absent.

Glanzmann thrombasthenia is inherited in an autosomal recessive manner, which means that individuals must inherit two mutated copies of either the ITGA2B or ITGB3 gene in order to develop the condition. If an individual has one mutated copy of the gene and one normal copy, they are considered a carrier and typically do not experience any symptoms.

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The frequency of Glanzmann thrombasthenia in the general population is estimated to be around 1 in 1 million people. However, it is more common in certain populations, such as the Arab population of Israel, where the frequency can be as high as 1 in 2000 to 1 in 4000 people.

For more information about the genes associated with Glanzmann thrombasthenia, you can visit the following resources:

  1. The OMIM catalog: This online catalog provides detailed information about the genes, inheritance patterns, and clinical features of Glanzmann thrombasthenia. It also includes references to scientific articles and other research studies.
  2. ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to Glanzmann thrombasthenia. It can be a valuable resource for individuals interested in participating in research or seeking additional support and information.
  3. PubMed: This database of scientific articles includes a wealth of information about the genetic causes and clinical features of Glanzmann thrombasthenia. It can be a valuable resource for researchers and healthcare professionals.

By learning more about the genes associated with Glanzmann thrombasthenia, we can better understand the causes of this condition and work towards improved diagnosis, treatment, and support for affected individuals and their families.

Inheritance

Glanzmann thrombasthenia (GT) is a rare hereditary condition caused by a deficiency or abnormality of the glycoprotein complex on the surface of blood cells. The condition is associated with mutations in the ITGA2B and ITGB3 genes, which encode the proteins responsible for platelet aggregation and clot formation. GT is inherited in an autosomal recessive manner, meaning that both copies of the gene must be affected for a person to develop the condition.

Research and scientific studies have shown that GT affects approximately 1 in every 1 million people worldwide. The condition has been reported in various populations, with slightly different frequencies in different ethnic groups. More information about the frequency of GT can be found on the Online Mendelian Inheritance in Man (OMIM) catalog.

Genetic testing is available to confirm a diagnosis of GT. It involves analyzing a person’s DNA to identify mutations in the ITGA2B and ITGB3 genes. This testing can be performed by specialized laboratories or genetic centers. Information about available genetic testing services can be found on websites such as OMIM, PubMed, or ClinicalTrials.gov.

It is important for patients and their families to learn about inheritance and the causes of GT. Genetic counseling can provide valuable information and support for individuals and families affected by GT. Advocacy organizations and support groups can also provide additional resources and information.

For more information about inheritance and associated genes, it is recommended to consult scientific articles and references from reputable sources. Websites such as OMIM, PubMed, and ClinicalTrials.gov can provide up-to-date information on the latest research, clinical trials, and genetic studies related to GT and other rare genetic diseases.

In summary, Glanzmann thrombasthenia is a rare hereditary condition associated with mutations in the ITGA2B and ITGB3 genes. The inheritance pattern is autosomal recessive, and genetic testing is available for diagnosis. Additional information and support can be obtained from advocacy organizations, support groups, and reputable sources such as OMIM, PubMed, and ClinicalTrials.gov.

Other Names for This Condition

Glanzmann thrombasthenia is also known by several other names, including:

  • Hereditary bleeding disorder
  • Thrombasthenia
  • Glanzmann disease
  • Glansmann thrombasthenia

These names are used interchangeably to refer to the same condition.

Glanzmann thrombasthenia is a rare genetic disorder that affects the normal function of a specific glycoprotein known as integrin alpha-IIb beta-3 (ITGA2B/ITGB3). This glycoprotein is responsible for helping platelets in the blood to clump together and form blood clots to stop bleeding.

People with Glanzmann thrombasthenia have a deficiency or dysfunction of the integrin alpha-IIb beta-3 glycoprotein, which leads to a decreased ability to form blood clots.

The inheritance of Glanzmann thrombasthenia is autosomal recessive, which means that both parents must carry and pass on a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25 percent chance with each pregnancy that their child will have Glanzmann thrombasthenia.

There is currently no cure for Glanzmann thrombasthenia, but there are treatments available to help manage and control the symptoms. These treatment options include platelet transfusions, clotting factor infusions, and medication.

For more information on Glanzmann thrombasthenia, you can refer to the following resources:

  • The Glanzmann Thrombasthenia Registry at the Glanzmann Thrombasthenia Research Center provides information and support for patients and families affected by the condition. They also have a comprehensive list of references and articles related to Glanzmann thrombasthenia.
  • The Genetic and Rare Diseases Information Center (GARD) provides information on Glanzmann thrombasthenia, including its frequency, causes, inheritance, and more.
  • The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic disorders, including Glanzmann thrombasthenia.
  • ClinicalTrials.gov provides a searchable database of ongoing clinical trials for Glanzmann thrombasthenia. This resource can be helpful for people who are interested in participating in research studies or clinical trials.
  • PubMed is another useful resource for finding scientific articles and studies on Glanzmann thrombasthenia and related diseases.
  • Advocacy organizations, such as the Platelet Disorder Support Association (PDSA), can provide additional support and information for people affected by Glanzmann thrombasthenia.

Overall, Glanzmann thrombasthenia is a rare genetic condition associated with a deficiency or dysfunction of the integrin alpha-IIb beta-3 glycoprotein. Although there is no cure, there are resources and support available to help individuals and families affected by this condition.

Additional Information Resources

Here are some additional resources that you can use to learn more about Glanzmann thrombasthenia:

  • Articles: Several articles have been published that provide information about Glanzmann thrombasthenia. These articles can help you understand the condition and its causes.
  • Patient Support Groups: There are patient support groups and advocacy organizations that provide information, support, and resources for people with Glanzmann thrombasthenia and their families.
  • Genetic Testing: Genetic testing can be done to identify the specific genes, such as ITGA2B and ITGB3, that are associated with Glanzmann thrombasthenia. This testing can help provide a definitive diagnosis.
  • Hereditary Causes: Glanzmann thrombasthenia is a hereditary condition that is caused by mutations in the genes encoding the glycoprotein receptors on platelets. These mutations cause a deficiency or dysfunction of the receptors, leading to abnormal platelet function.
  • Research Studies: There are ongoing research studies on Glanzmann thrombasthenia that aim to better understand the condition and develop new treatments. ClinicalTrials.gov is a valuable resource for finding information about these studies.
  • Scientific Journals: Scientific journals, such as PubMed, publish research articles and studies on Glanzmann thrombasthenia. These articles can provide more in-depth information about the condition and its management.
  • Additional Resources: There are other resources available, such as the Online Mendelian Inheritance in Man (OMIM) catalog, that provide comprehensive information on the genetics, inheritance patterns, and associated diseases of Glanzmann thrombasthenia.
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By utilizing these resources, you can gain a better understanding of Glanzmann thrombasthenia and find support and information to help manage the condition.

Genetic Testing Information

Glanzmann thrombasthenia is a rare, hereditary condition that is caused by the deficiency of the glycoprotein complex integrin alpha-IIb beta-3 (ITGA2B/ITGB3) on the surface of platelets. This deficiency results in impaired platelet aggregation, leading to a bleeding disorder.

Genetic testing is available to confirm the diagnosis of Glanzmann thrombasthenia. Testing can reveal mutations in the ITGA2B or ITGB3 genes, which are responsible for the production of the integrin complex. The ITGA2B and ITGB3 genes are located on chromosome 17 and are inherited in an autosomal recessive manner.

By identifying the specific genetic cause of Glanzmann thrombasthenia in a patient, genetic testing can provide important information for clinical management and genetic counseling. It can also help in distinguishing Glanzmann thrombasthenia from other bleeding disorders with similar clinical features.

Patients with Glanzmann thrombasthenia may benefit from genetic counseling and support groups. Advocacy organizations can provide resources and support for patients and their families. These organizations can offer information on the latest research, clinical trials, and treatment options for Glanzmann thrombasthenia.

Additional information about Glanzmann thrombasthenia and genetic testing can be found at the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – This catalog of human genes and genetic disorders provides detailed information on Glanzmann thrombasthenia and associated genes.
  • Genetic and Rare Diseases Information Center – This resource provides information about Glanzmann thrombasthenia and other rare diseases, including inheritance patterns and frequency.
  • PubMed – This database of scientific articles contains studies and research on Glanzmann thrombasthenia and related topics.
  • ClinicalTrials.gov – This comprehensive database provides information on current clinical trials for Glanzmann thrombasthenia and other diseases.

By learning more about the genetic causes, clinical features, and available resources for Glanzmann thrombasthenia, patients and their families can better understand and manage this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH). It offers valuable information about genetic and rare diseases, including Glanzmann thrombasthenia.

Glanzmann thrombasthenia is a rare hereditary genetic condition that affects the normal function of blood platelets. It is caused by a deficiency or abnormality in the glycoprotein complex called integrin alpha-IIb beta-3 (ITGA2B/ITGB3). This complex is involved in the process of platelet aggregation, which is crucial for blood clotting.

People with Glanzmann thrombasthenia have a decreased ability to form blood clots, which can lead to symptoms such as easy bruising, prolonged bleeding, and abnormal bleeding after injury or surgery.

Additional information about Glanzmann thrombasthenia can be found on the GARD website. The website provides a comprehensive catalog of genetic and rare diseases, along with associated genes, references, and articles from scientific research.

The GARD website also offers resources for patients and advocacy groups, including information about patient support and clinical trials. The website provides links to other reliable sources of information, such as PubMed, OMIM, and clinicaltrialsgov, where more information about Glanzmann thrombasthenia can be found.

The frequency of Glanzmann thrombasthenia is estimated to be less than 1 in 1,000,000 people. It is inherited in an autosomal recessive manner, which means that both copies of the ITGA2B or ITGB3 gene must be mutated to develop the condition.

Genetic testing is available to confirm a diagnosis of Glanzmann thrombasthenia. Testing for mutations in the ITGA2B or ITGB3 genes can help determine the genetic cause of the condition.

In summary, the Genetic and Rare Diseases Information Center provides a wealth of information about Glanzmann thrombasthenia and other genetic and rare diseases. It is a valuable resource for both healthcare professionals and individuals seeking to learn more about these conditions.

Patient Support and Advocacy Resources

Patients with Glanzmann thrombasthenia can find support and advocacy resources to help them manage their condition and connect with others facing similar challenges. Here is a list of resources that provide information, support, and additional resources for patients and their families:

  • The Glanzmann Thrombasthenia Registry – The Glanzmann Thrombasthenia Registry is a global research center that collects and analyzes data on patients with Glanzmann thrombasthenia. It provides comprehensive information about the condition, including its causes, genetics, and clinical manifestations. The registry also offers genetic testing for patients and their families to identify the specific genetic deficiency causing the disease. Visit their website at https://www.ncbi.nlm.nih.gov/pubmed for more information.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides resources and information on rare genetic diseases. They offer a comprehensive overview of Glanzmann thrombasthenia, including its symptoms, causes, inheritance patterns, and treatment options. Visit their website at https://www.ncbi.nlm.nih.gov/omim to learn more.
  • The Platelet Disorder Support Association (PDSA) – The PDSA is a non-profit organization dedicated to providing support and resources to patients with platelet disorders, including Glanzmann thrombasthenia. They offer educational materials, information on clinical trials, and a community forum where patients and families can connect with others. Visit their website at https://www.clinicaltrials.gov for more information.
  • Additional Resources – Other resources that may be helpful for patients include scientific articles on Glanzmann thrombasthenia, available on pubmed.gov. These articles provide in-depth information on the condition, its pathophysiology, and current research. Additionally, patients can find information on genetic testing and counseling services that specialize in rare genetic diseases.
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By utilizing these patient support and advocacy resources, individuals with Glanzmann thrombasthenia can access valuable information, connect with others, and find the support they need to manage their condition.

Research Studies from ClinicalTrialsgov

Research studies on Glanzmann thrombasthenia can be found in the ClinicalTrialsgov catalog. Glanzmann thrombasthenia is a rare genetic deficiency that affects the glycoprotein on the blood cells, causing patient with this condition to have less normal blood clotting. ClinicalTrialsgov is a valuable resource for finding information on clinical trials and research studies related to Glanzmann thrombasthenia and other hereditary diseases.

There are several ongoing studies listed on ClinicalTrialsgov that focus on Glanzmann thrombasthenia. These studies aim to investigate the causes of the condition, the frequency and inheritance patterns, and potential treatment options. They also provide additional information on the normal genes associated with Glanzmann thrombasthenia and offer testing options for people who may be affected.

In addition to the research studies, ClinicalTrialsgov also provides references to scientific articles and resources to learn more about Glanzmann thrombasthenia. These articles often discuss the genetic causes of the condition, associated symptoms, and potential treatment options. They also provide information on advocacy and support groups for people with Glanzmann thrombasthenia and their families.

With the help of ClinicalTrialsgov, more information is being gathered on Glanzmann thrombasthenia, leading to a better understanding of the condition and potential advancements in treatment. If you or someone you know has Glanzmann thrombasthenia, it is highly recommended to explore the various resources available on ClinicalTrialsgov to find out more about ongoing research studies and support options.

References:
Resource Description
PubMed Provides articles and scientific publications on Glanzmann thrombasthenia
OMIM Offers genetic and clinical information on Glanzmann thrombasthenia
Glanzmann Thrombasthenia Research Center A center dedicated to researching Glanzmann thrombasthenia

By exploring these resources and participating in research studies from ClinicalTrialsgov, individuals with Glanzmann thrombasthenia can contribute to the scientific understanding of the condition and work towards finding better treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource providing information about genetic diseases and associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that collects and organizes information about genetic disorders and their associated genes.

Within the catalog, you can find detailed information about Glanzmann thrombasthenia, a rare hereditary blood disorder caused by a deficiency in glycoprotein receptors on platelets. This condition causes platelets to be less able to bind together, resulting in prolonged bleeding and other symptoms.

The catalog provides a list of genes associated with Glanzmann thrombasthenia, including ITGA2B and ITGB3. These genes play a crucial role in the normal function of platelets and are involved in the formation of the glycoprotein receptors.

For each gene, the catalog offers information about its inheritance pattern, frequency in the population, and known mutations that can cause the condition. It also includes references to scientific articles and additional resources for further research.

In addition to Glanzmann thrombasthenia, the catalog lists other rare genetic diseases and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and advocacy groups working to support people affected by genetic conditions.

For more information about Glanzmann thrombasthenia or to learn about ongoing research and clinical trials, you can visit the Glanzmann Thrombasthenia Center, the ClinicalTrials.gov website, or consult the references listed in the catalog.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable source of information for understanding the genetic causes of rare diseases and supporting research in this field.

Scientific Articles on PubMed

Glanzmann thrombasthenia is a rare, hereditary blood disorder caused by a deficiency or dysfunction of the glycoprotein receptors on platelets. This condition is primarily caused by mutations in the ITGA2B and ITGB3 genes.

Within PubMed, a valuable resource for scientific articles, there are numerous studies and research papers available on Glanzmann thrombasthenia. These articles provide information about the genetic causes, clinical manifestations, testing frequency, and other associated diseases.

One of the important genes associated with Glanzmann thrombasthenia is ITGA2B, which encodes the αIIb subunit of the glycoprotein receptor complex. Another gene, ITGB3, encodes the β3 subunit of the same receptor complex. Mutations in these genes can lead to a deficiency or dysfunctional glycoprotein receptor, resulting in the clinical manifestations of Glanzmann thrombasthenia.

There are various scientific articles available on PubMed that provide additional information about Glanzmann thrombasthenia. These articles discuss the frequency of the condition, genetic inheritance patterns, and support rare case studies. The OMIM database is also a valuable resource for genetic information on Glanzmann thrombasthenia.

In addition to scientific articles, there are advocacy and research centers that provide support and information about Glanzmann thrombasthenia. These centers work to improve the understanding of the condition, provide resources for patients and their families, and facilitate clinical trials. The ClinicalTrials.gov database can be utilized to learn more about ongoing trials and research studies related to Glanzmann thrombasthenia.

In summary, PubMed offers a wealth of scientific articles on Glanzmann thrombasthenia, providing information about the genetic causes, clinical manifestations, and associated diseases. The OMIM database and advocacy centers support further research and provide resources for patients and their families. ClinicalTrials.gov offers information on current clinical trials and research studies to further our understanding of this rare blood disorder.

References

1. Glanzmann thrombasthenia. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/9985/glanzmann-thrombasthenia. Accessed on November 10, 2021.

2. Glanzmann thrombasthenia. OMIM – Online Mendelian Inheritance in Man. Available at: https://omim.org/entry/273800. Accessed on November 10, 2021.

3. Glanzmann thrombasthenia. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=glanzmann+thrombasthenia. Accessed on November 10, 2021.

4. Glanzmann thrombasthenia. ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/results?cond=Glanzmann+thrombasthenia&term=&cntry=&state=&city=&dist=. Accessed on November 10, 2021.

5. Glanzmann thrombasthenia. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/glanzmann-thrombasthenia/. Accessed on November 10, 2021.

6. ITGA2B gene. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/ITGA2B. Accessed on November 10, 2021.

7. ITGB3 gene. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/ITGB3. Accessed on November 10, 2021.