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Factor XI deficiency, also known as hemophilia C, is a genetic blood disorder that is characterized by a deficiency of factor XI, which is a clotting factor in the blood. This condition is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene – one from each parent – in order to develop the disease.

Scientific research on factor XI deficiency has provided important information about the causes, severity, and associated disorders of the condition. Studies have shown that factor XI deficiency is more common in certain populations, such as Ashkenazi Jews, where it occurs in approximately 1 in 450 individuals.

Factor XI deficiency can occur in both complete and partial forms, with the severity of the disease varying from person to person. Individuals with partial deficiency may only experience abnormal bleeding following significant trauma or surgery, while those with complete deficiency may have spontaneous bleeding episodes.

Although factor XI deficiency is a rare disease, there are resources available to support patients and their families. Advocacy groups and support centers provide information, testing, and additional resources for individuals with the condition. ClinicalTrials.gov and PubMed are also valuable sources for learning more about ongoing research and clinical trials related to factor XI deficiency.

Frequency

Factor XI deficiency is a rare genetic condition that affects the amount and function of Factor XI, a protein involved in the blood clotting process. The frequency of this condition in the general population is relatively low, with an estimated prevalence of 1 in 1,000 to 1 in 1,000,000 individuals.

Factor XI deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. Individuals who inherit only one copy of the defective gene are carriers of the condition but usually do not experience any symptoms or complications.

Just under half – 49% – of Americans get their health insurance through their employer, according to the Henry J. Kaiser Family Foundation. Another 19% of Americans are insured under Medicaid, 14% under Medicare, seven% under non-group plans and two% under other public insurers, while nine% of U.S. citizens remain uninsured.

The severity of Factor XI deficiency can vary widely among affected individuals. Some individuals may have mild symptoms and only experience excessive bleeding after trauma or surgery, while others may have more severe symptoms and experience spontaneous bleeding episodes. The severity of the condition is influenced by various factors, including the specific genetic mutations involved and any additional genetic or environmental factors that may be present.

To learn more about Factor XI deficiency and its frequency, you can refer to scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders. Genetic testing can also be done to determine if an individual has Factor XI deficiency.

Additional research and studies are ongoing to further understand the causes and associated factors of Factor XI deficiency. This includes both clinical trials and genetic research to identify the specific genes and mutations involved in the condition.

Support and advocacy resources are available to assist patients and families affected by Factor XI deficiency. These resources can provide information on the condition, support groups, and access to clinical trials and research studies. Some organizations and centers, such as the National Hemophilia Foundation, specialize in providing support and resources for individuals with rare blood disorders.

For more information about the frequency, clinical features, genetic causes, and additional resources on Factor XI deficiency, you can refer to scientific articles available on PubMed, a comprehensive catalog of published research studies.

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Causes

Factor XI deficiency is a rare inherited blood clotting disorder. It occurs when there is a deficiency of factor XI, which is an important protein involved in the coagulation cascade. This protein helps to form blood clots to stop bleeding.

The frequency of factor XI deficiency varies among different populations. It is more common in individuals of Ashkenazi Jewish descent, where the prevalence is estimated to be around 9% of the population. In other populations, the frequency is much lower, ranging from 1 in 500 to 1 in 5,000 individuals.

The condition is primarily caused by mutations in the F11 gene, which provides instructions for producing factor XI. These mutations can lead to a decrease in the amount or function of factor XI, resulting in the deficiency. In some cases, other genetic or acquired factors may also contribute to the development of the condition.

Factor XI deficiency is usually inherited in an autosomal recessive pattern, which means that individuals need to inherit two copies of the mutated gene (one from each parent) to have the disease. However, there have been rare cases of partial factor XI deficiency occurring in individuals who have only one copy of the mutated gene.

Some individuals with factor XI deficiency may not experience any symptoms, while others may have abnormal bleeding or bruising after injury or surgery. The severity of the condition can vary among individuals, and its impact on hemostasis (the process of blood clot formation) is influenced by various genetic and environmental factors.

Apart from factor XI deficiency itself, certain genetic disorders may also be associated with an increased risk of bleeding, including von Willebrand disease, hemophilia A, and hemophilia B. It is important to distinguish factor XI deficiency from these other bleeding disorders to provide appropriate management and treatment.

For more information on scientific research, genetic testing, and clinical trials related to factor XI deficiency, you can refer to the following resources:

  • PubMed – a database of scientific articles: PubMed
  • OMIM – a catalog of human genes and genetic disorders: OMIM
  • ClinicalTrials.gov – a registry of clinical trials: ClinicalTrials.gov
  • Factor XI Deficiency Center – a center for advocacy, information, and support for individuals and families affected by factor XI deficiency: Factor XI Deficiency Center

By learning more about the causes and associated disorders of factor XI deficiency, we can improve our understanding of this rare condition and provide better care and support for affected individuals and their families.

Learn more about the gene associated with Factor XI deficiency

Factor XI deficiency is a rare genetic condition that affects the body’s ability to form blood clots. It is caused by mutations in the F11 gene, which provides instructions for making a protein called coagulation factor XI. This protein plays a critical role in the blood clotting process.

See also  Shprintzen-Goldberg syndrome

Frequency of Factor XI deficiency varies among different populations. In individuals of Ashkenazi Jewish descent, the condition is more common, occurring in about 1 in 5,000 individuals. In other populations, the frequency is much lower.

The F11 gene is located on chromosome 4q35. Mutations in this gene can result in reduced amounts of functional coagulation factor XI, leading to the development of the condition.

Factor XI deficiency is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual inherits only one copy of the mutated gene, they are considered carriers and do not typically experience symptoms of the condition.

The severity of Factor XI deficiency can vary widely between individuals. Some affected individuals may never experience abnormal bleeding, while others may have a higher risk of excessive bleeding after injury or surgery.

Research studies have identified over 170 different mutations in the F11 gene that are associated with Factor XI deficiency. Genetic testing can be done to determine the specific mutation present in an individual with the condition. This information can be helpful for diagnosis, prognosis, and genetic counseling.

Additional resources for information about Factor XI deficiency and the F11 gene can be found on the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide scientific articles, clinical trials, patient advocacy groups, and more.

Inheritance

Factor XI deficiency is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of an abnormal gene to develop the condition. In most cases, each parent of an affected individual carries one copy of the abnormal gene and one normal gene, making them carriers of the gene but not affected by the deficiency themselves.

The gene responsible for factor XI deficiency is called F11 and is located on chromosome 4. Mutations in the F11 gene can cause partial or complete deficiency of factor XI in the blood. Different mutations in the F11 gene can result in different levels of factor XI activity, leading to varying severity of the disease.

Factor XI deficiency is a rare condition, with a frequency estimated to be less than 1 in 1,000 individuals in the general population. However, the condition may be more common in certain populations, such as individuals of Ashkenazi Jewish descent, where the frequency of the condition can be as high as 1 in 20 individuals.

Testing for factor XI deficiency can be done through genetic testing, which can identify mutations in the F11 gene associated with the condition. Genetic testing can be useful for confirming a diagnosis, determining the severity of the deficiency, and providing information for genetic counseling.

Additional information about factor XI deficiency, including clinical trials, research studies, and advocacy resources, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide valuable information for patients and families affected by factor XI deficiency, as well as healthcare professionals and researchers interested in learning more about the condition.

References:

Other Names for This Condition

Factor XI deficiency may occur under different names. Some of the other names for this condition include:

  • Hemophilia C
  • Plasma thromboplastin antecedent (PTA) deficiency
  • PTA deficiency
  • Rosenthal syndrome
  • Christmas disease, factor XI type
  • FXI deficiency
  • Hemostatic disorder due to factor XI deficiency
  • Hemorrhagic disease due to factor XI deficiency

These alternative names reflect the different aspects and causes of the disease. While factor XI deficiency is the most commonly used name, the other names help to provide more specific information about the condition.

Factor XI deficiency is a rare genetic disorder that affects the blood’s ability to clot. It is caused by mutations in the F11 gene, which provides instructions for making factor XI. The inheritance pattern can be autosomal recessive or autosomal dominant, depending on the severity of the deficiency.

Patients with factor XI deficiency may experience mild to severe bleeding episodes, which can occur spontaneously or after surgery or injury. Additional information and support for patients and their families can be found through advocacy groups, such as the National Hemophilia Foundation and the World Federation of Hemophilia.

Genetic testing can confirm a diagnosis of factor XI deficiency. This testing looks for mutations in the F11 gene and can help determine the severity of the deficiency. Studies and scientific articles on factor XI deficiency can be found on PubMed and other scientific databases.

For more information and resources on factor XI deficiency, you can visit the following websites:

  • Online Mendelian Inheritance in Man (OMIM)
  • ClinicalTrials.gov
  • Hemostasis and Thrombosis Research Center
  • Factor XI Deficiency Association
  • Genetic and Rare Diseases Information Center (GARD)

These resources provide valuable information and support for individuals and families affected by factor XI deficiency and other bleeding disorders. They offer information about the causes, symptoms, and treatment options for the condition, as well as information on clinical trials and ongoing research.

Additional Information Resources

  • GeneReviews: A comprehensive resource that provides expert-authored, peer-reviewed, up-to-date clinical information about genetic disorders, including Factor XI deficiency. It offers information about the genes, inheritance patterns, clinical features, diagnosis, management, and genetic counseling for this condition. Available at: https://www.ncbi.nlm.nih.gov/books/NBK6483/
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the causes, clinical features, inheritance patterns, and molecular biology of Factor XI deficiency. Available at: https://www.omim.org/entry/612416
  • Hemostasis and Thrombosis Research Society: This organization provides information on bleeding and clotting disorders, including Factor XI deficiency. It offers resources such as educational materials, guidelines, and links to relevant research and clinical trials. Available at: https://www.htrs.org/
  • PubMed: A database of biomedical literature that provides access to scientific articles on Factor XI deficiency. It allows users to search for publications related to the condition and stay updated on the latest research developments. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Factor XI Deficiency Registry: A patient advocacy and support organization that aims to connect families affected by Factor XI deficiency. It provides resources, support networks, and educational materials to help patients and their families navigate the challenges associated with the condition. Available at: https://www.factorxi.org/
  • ClinicalTrials.gov: A registry and database of clinical trials conducted on Factor XI deficiency and other genetic disorders. It provides information on ongoing and completed studies, including details on study design, eligibility criteria, and contact information for participating centers. Available at: https://clinicaltrials.gov/
  • Blood: A scientific journal that publishes research articles on various aspects of hemostasis and thrombosis, including studies on Factor XI deficiency. It offers valuable insights into the pathogenesis, diagnosis, and treatment of this rare genetic condition. Available at: https://www.bloodjournal.org/

Genetic Testing Information

Factor XI deficiency is a rare genetic disease that occurs when there is a partial or complete deficiency of the factor XI protein. This protein plays a key role in the clotting process, and its deficiency can lead to abnormal bleeding.

See also  Lateral meningocele syndrome

Genetic testing is used to diagnose Factor XI deficiency and determine its severity. This testing can identify mutations in the F11 gene, which is responsible for producing factor XI. By analyzing the patient’s DNA, genetic testing can determine the amount of factor XI protein present and assess the genetic cause of the deficiency.

Genetic testing for Factor XI deficiency can be performed in specialized centers that have the necessary resources and expertise. The testing process involves collecting a blood sample from the patient and analyzing it in a laboratory setting.

Genetic testing can provide important information for patients and their families. It can help them understand the inheritance pattern of the condition and learn about the frequency of the disease in the general population. Additionally, genetic testing can guide treatment decisions and management strategies for patients with Factor XI deficiency.

There are several resources available for obtaining genetic testing information and support. The National Institute of Health’s Genetic Testing Registry (GTR) is a centralized database that provides information on available genetic tests and labs. The OMIM (Online Mendelian Inheritance in Man) catalog offers detailed scientific information on genes, disorders, and inherited traits.

Published articles and research studies on Factor XI deficiency can be found in scientific databases such as PubMed and Blood. These resources can provide additional information on the genetic causes, clinical trials, and treatment options for the condition.

Genetic testing results should be interpreted and discussed with a healthcare provider or genetic counselor who specializes in factor XI deficiency. They can help explain the implications of the test results and provide guidance for managing the condition.

In conclusion, genetic testing is an important tool for diagnosing Factor XI deficiency and understanding its genetic causes. It can provide valuable information for patients and their families, and guide treatment decisions. The availability of resources and support from advocacy groups and research centers can further enhance the understanding and management of this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases to patients, families, and the scientific community. GARD is a valuable source of information for understanding the causes, inheritance patterns, and clinical features of a wide range of genetic and rare diseases, including Factor XI deficiency.

Factor XI deficiency is a rare genetic disorder that affects the blood’s ability to clot properly. It is caused by mutations in the F11 gene, which provides instructions for making a protein called coagulation factor XI. Factor XI deficiency can be inherited in an autosomal recessive pattern, which means that both copies of the F11 gene in each cell have mutations. In some cases, Factor XI deficiency is inherited in an autosomal dominant pattern, which means that only one copy of the F11 gene in each cell has a mutation. The severity of the disease can vary widely, with some individuals experiencing mild symptoms and others experiencing more severe symptoms.

GARD provides a comprehensive catalog of articles, references, and resources on Factor XI deficiency. This includes information about the frequency of the disease, clinical trials and research studies, genetic testing, and advocacy and support organizations. GARD also provides information on other associated disorders and conditions related to Factor XI deficiency.

Patients and families can find additional information and support from organizations such as the National Hemophilia Foundation and the World Federation of Hemophilia. These organizations offer resources, educational materials, and patient support programs for individuals with Factor XI deficiency and other bleeding disorders.

For scientific and healthcare professionals, GARD provides links to relevant articles and references from PubMed, OMIM, and clinicaltrials.gov. These resources offer more in-depth information about the genetic causes, clinical features, and management of Factor XI deficiency.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for learning more about Factor XI deficiency and other genetic and rare diseases. GARD provides up-to-date information, resources, and support for patients, families, and the scientific community.

Patient Support and Advocacy Resources

Patients with Factor XI deficiency, a rare genetic disorder that affects the blood clotting process, have access to various support and advocacy resources. These resources aim to educate patients, provide emotional support, and advocate for the needs of individuals and families affected by this condition.

Patient Organizations:

  • Factor XI Deficiency Foundation: The Factor XI Deficiency Foundation is a patient organization dedicated to raising awareness about the condition and providing support to affected individuals and their families. The foundation offers resources such as educational materials, support groups, and assistance in finding healthcare professionals with expertise in the management of factor XI deficiency.

Research and Clinical Trials:

  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials exploring new treatments and interventions for factor XI deficiency. Patients and families can search for studies in their area and learn about eligibility criteria and enrollment information. This resource allows patients to stay updated on the latest research developments and potentially participate in clinical trials.
  • GeneReviews: GeneReviews is a comprehensive online resource that provides information about genetic disorders, including factor XI deficiency. Patients and families can learn more about the condition, its inheritance patterns, associated symptoms, and available genetic testing options.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database that catalogs genetic disorders and their associated genes. It provides detailed information about the genetic causes, clinical features, and inheritance patterns of various diseases, including factor XI deficiency.
  • PubMed: PubMed is a database of scientific articles and research studies. Patients and families can search for articles related to factor XI deficiency to learn about the latest advancements in the field.

Additional Resources:

  • Hemophilia Treatment Centers (HTCs): HTCs are specialized centers that provide comprehensive care for individuals with bleeding disorders, including factor XI deficiency. They offer diagnostic testing, treatment, and ongoing management of the condition.
  • Advocacy Organizations: Various advocacy organizations, such as the National Hemophilia Foundation and the World Federation of Hemophilia, work to raise awareness about bleeding disorders and advocate for the needs of individuals and families affected by these conditions. These organizations often provide educational resources, support networks, and opportunities for individuals to get involved in advocacy efforts.

By utilizing these patient support and advocacy resources, individuals and families affected by factor XI deficiency can access valuable information, connect with others facing similar challenges, and stay informed about the latest advancements in research and treatment options.

Research Studies from ClinicalTrialsgov

The Factor XI deficiency is a rare genetic blood disorder. It is also known as Hemophilia C and Rosenthal syndrome.

Research studies from ClinicalTrials.gov provide valuable information on this rare genetic disease. These studies aim to understand the causes, frequency, and severity of Factor XI deficiency, as well as provide support and resources for patients with this condition.

See also  COL5A1 gene

OMIM, the Online Mendelian Inheritance in Man, catalog is a valuable resource that provides information on the genes associated with rare genetic diseases. It contains references to scientific articles about Factor XI deficiency and other related hemostatic disorders.

Research studies from ClinicalTrials.gov also focus on families with Factor XI deficiency to learn more about the inheritance patterns and genetic causes of the condition. These studies aim to identify the genes and gene copies involved in Factor XI deficiency.

In addition to testing the genetic causes of Factor XI deficiency, research studies from ClinicalTrials.gov also seek to understand the clinical presentation and severity of the disease. This information can help healthcare professionals develop better treatments and support strategies for patients.

Advocacy organizations for Factor XI deficiency, such as the National Hemophilia Foundation, also provide resources and support for patients and families affected by this rare genetic disorder.

More research and clinical trials are needed to advance the understanding and treatment of Factor XI deficiency. By participating in these studies, patients and their families can contribute to scientific knowledge and potentially improve their own healthcare outcomes.

For more information about research studies and clinical trials on Factor XI deficiency, visit ClinicalTrials.gov or refer to scientific articles available on PubMed.

  1. OMIM: Factor XI deficiency. Available from: https://omim.org/entry/612416
  2. National Hemophilia Foundation: Factor XI Deficiency. Available from: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI-Deficiency

Selected Research Studies from ClinicalTrials.gov on Factor XI Deficiency
Study Objective Participant Status
A Study to Evaluate the Safety and Efficacy of a Factor XI Antisense Oligonucleotide (IONIS-FXI Rx) in Healthy Volunteers and Patients with Factor XI Deficiency To investigate the safety and efficacy of IONIS-FXI Rx Healthy volunteers and patients with Factor XI deficiency Recruiting
Characterizing the Clinical, Molecular, and Platelet Functional Features of Patients With Severe Monoallelic GpIb Deficiency and Its Impact on the Clinical Phenotype and Bleeding Risk To characterize the clinical, molecular, and platelet functional features of severe monoallelic GpIb deficiency Patients with severe monoallelic GpIb deficiency Active, not recruiting

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive resource that provides information about genetic disorders. It contains articles, advocacy resources, and clinical trial information for various conditions, including Factor XI deficiency.

Factor XI deficiency is a rare genetic disorder that affects the blood’s ability to clot. It is caused by mutations in the F11 gene, which codes for coagulation Factor XI. This deficiency can result in mild to severe bleeding, with the severity varying from patient to patient.

OMIM provides additional information about the inheritance pattern, clinical features, and frequency of Factor XI deficiency. It also includes scientific references and studies conducted on this disorder. The catalog also lists other associated diseases and genes that can cause similar blood clotting disorders.

Testing for Factor XI deficiency can be done through genetic testing, which can detect mutations in the F11 gene. This testing can help diagnose the condition, assess the severity, and provide information about the risk of bleeding episodes.

In families with a history of Factor XI deficiency, genetic testing can also be used for carrier testing and preimplantation genetic diagnosis. This can help individuals make informed decisions about family planning and reproductive choices.

OMIM is a valuable resource for patients and families affected by Factor XI deficiency, providing them with access to information, support groups, and advocacy resources. It can help them learn more about the condition, connect with others facing similar challenges, and stay updated on the latest research and clinical trials.

For more information about Factor XI deficiency, you can visit the OMIM website or explore the scientific literature available on PubMed, which has numerous articles on this topic. ClinicalTrials.gov is another resource that provides information about ongoing clinical trials related to Factor XI deficiency.

Scientific Articles on PubMed

Factor XI deficiency is a rare genetic disorder that causes defects in blood clotting, known as hemostasis. It is associated with mutations in the factor XI gene, more commonly known as F11. Copies of this gene are inherited from both parents, and any changes or mutations in the gene can lead to a deficiency in factor XI, affecting the amount and severity of clotting.

Scientific articles about factor XI deficiency can be found on PubMed, a database of research articles on various diseases and disorders. These articles provide valuable information about the condition, its causes, associated diseases, and potential treatments.

One such study published on PubMed investigated the frequency of factor XI deficiency in different populations. The research found that the deficiency occurs more commonly in certain ethnic groups and is less prevalent in others. The study also highlighted the importance of genetic testing to identify the specific mutations in the F11 gene.

Another study on PubMed examined the clinical and genetic characteristics of factor XI deficiency in patients and their families. The research identified specific mutations in the F11 gene that were associated with a more severe form of the disease. This information can help in the diagnosis and management of affected individuals and their families.

In addition to research articles, PubMed also provides resources for support and advocacy for rare diseases like factor XI deficiency. The center for advocacy on rare diseases has information and resources for patients, families, and healthcare professionals to learn more about the condition and find additional support.

Other articles on PubMed discuss the testing methods for factor XI deficiency, the inheritance pattern of the condition, and the clinical trials that are being conducted to explore potential treatments. These studies contribute to our understanding of the disorder and provide hope for better management and treatment options in the future.

For more information about factor XI deficiency, including references to scientific articles and studies, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. This resource provides comprehensive information about the genetic, clinical, and molecular characteristics of various disorders, including factor XI deficiency.

In conclusion, factor XI deficiency is a rare genetic disorder that affects blood clotting. Scientific articles on PubMed provide valuable information about the condition, its genetic causes, associated diseases, and potential treatment options. These resources are essential for healthcare professionals, researchers, and individuals affected by this condition to learn more and find support.

References

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