Hemophilia

Published Categorized as Genetics
Hemophilia

Hemophilia is a rare genetic disorder that affects the body’s ability to produce clotting factors. It is characterized by a deficiency of either factor VIII (hemophilia A) or factor IX (hemophilia B). Hemophilia is inherited in an X-linked recessive manner, which means that it primarily affects males. Women can also inherit the condition and may be carriers, but they typically do not experience symptoms.

The frequency of hemophilia varies among different populations, with an estimated prevalence of 1 in 5,000 to 10,000 males. Hemophilia A is more common than hemophilia B, accounting for about 80-85% of cases. The severity of the condition can vary, with some individuals experiencing mild symptoms and others experiencing more severe complications.

Hemophilia is caused by mutations in the F8 gene (for hemophilia A) or the F9 gene (for hemophilia B), which are located on the X chromosome. These mutations result in a deficiency or dysfunction of the clotting factor, leading to prolonged bleeding and delayed clotting. Hemophilia can be diagnosed through genetic testing or by measuring the levels of clotting factors in the blood.

This condition can lead to spontaneous bleeding and can be life-threatening if not properly managed. Treatment for hemophilia includes replacement therapy, where the missing clotting factor is infused into the body to help support normal clotting. Additional interventions may be necessary to prevent and manage bleeding episodes.

Hemophilia has been the subject of extensive scientific research, with numerous studies and clinical trials conducted to improve diagnosis, treatment, and support for individuals with the condition. Resources and support for hemophilia patients and their families can be found through advocacy organizations, such as the National Hemophilia Foundation and the World Federation of Hemophilia.

References:

1. Oldenburg J, Konkle BA. Hemophilia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2019 Jun 13. PMID: 20301590.

2. Gripp KW, Wallace SE, Fletcher SE. Hemophilia A. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-2021. PMID: 20301783.

3. OMIM: Online Mendelian Inheritance in Man. Hemophilia A – #306700. Available from: https://www.omim.org/entry/306700

4. ClinicalTrials.gov. Search results for “hemophilia”. Available from: https://clinicaltrials.gov/ct2/results?term=hemophilia

Frequency

Hemophilia is a rare genetic disorder characterized by a deficiency in certain blood clotting factors, specifically factor VIII (hemophilia A) or factor IX (hemophilia B). It is primarily an X-linked recessive disorder, which means that it mainly affects males. The frequency of hemophilia in the general population is estimated to be around 1 in 5,000 live male births. Hemophilia A is more common than hemophilia B, with approximately 80% of cases being hemophilia A.

Hemophilia can also occur in females, although it is much less common. In these cases, females usually have a milder form of the condition. The inheritance of hemophilia in females is more complex, often involving carriers of the gene mutation on both X chromosomes. The prevalence of hemophilia in females is estimated to be around 1 in 50,000 to 1 in 100,000 females.

These frequency estimates are based on scientific research and studies conducted on patient populations. Continuous research and testing are ongoing to gather more information on the prevalence and genetic causes of hemophilia.

References:

Causes

Hemophilia is a genetic disorder caused by a deficiency or absence of certain clotting factors in the blood. There are two main types of hemophilia: hemophilia A, which is caused by a deficiency of clotting factor VIII, and hemophilia B, which is caused by a deficiency of clotting factor IX.

Hemophilia is most commonly inherited and passed down from parents to their children through the X chromosome. Since males have one X and one Y chromosome, if they inherit the defective gene on their X chromosome, they will develop hemophilia. Females, on the other hand, have two X chromosomes, so they would need to inherit the defective gene from both parents to develop the condition. However, females can still be carriers of the hemophilia gene and pass it on to their children.

In some cases, hemophilia can also be acquired later in life, usually as a result of certain medical conditions or treatments. This is known as acquired hemophilia.

The main cause of hemophilia is genetic mutations in the genes responsible for the production of clotting factors VIII and IX. These mutations can occur spontaneously or be inherited from parents who carry the mutated gene.

For hemophilia A, the gene responsible for factor VIII production is located on the X chromosome and is called F8. Mutations in the F8 gene result in a deficiency or absence of clotting factor VIII, leading to hemophilia A.

Similarly, for hemophilia B, the gene responsible for factor IX production is located on the X chromosome and is called F9. Mutations in the F9 gene result in a deficiency or absence of clotting factor IX, leading to hemophilia B.

There are also rare cases of hemophilia that are caused by mutations in other genes involved in the blood coagulation process.

References:

Learn more about the genes associated with Hemophilia

Hemophilia is a rare genetic condition that affects blood coagulation. It is usually caused by a deficiency in one of the genes responsible for the production of clotting factors in the body. There are two main types of hemophilia: Hemophilia A, which is caused by a deficiency of clotting factor VIII, and Hemophilia B, which is caused by a deficiency of clotting factor IX.

Genetic testing is available to confirm a diagnosis of hemophilia and to determine the specific gene mutation responsible for the condition. This information can be valuable for patients and their families in understanding the inheritance pattern and recurrence risk of hemophilia.

The genes associated with hemophilia have been extensively studied, and there is a wealth of scientific research and information available on the topic. The Online Mendelian Inheritance in Man (OMIM) database and GeneReviewsR are two comprehensive resources that provide detailed information on the genes associated with hemophilia.

OMIM is a catalog of human genes and genetic disorders. It provides a comprehensive summary of the genes, their specific mutations, and the clinical characteristics associated with hemophilia. GeneReviewsR is a series of expert-authored, peer-reviewed articles that provide in-depth information on the diagnosis, management, and genetic counseling of specific hereditary disorders, including hemophilia.

In addition to these resources, there are many scientific articles available on the topic of hemophilia. PubMed is a widely used database that provides access to a large collection of medical research articles. Searching for keywords such as “hemophilia genes” or “hemophilia genetics” in PubMed can yield a wealth of additional information.

It is important to note that hemophilia primarily affects males, as the genes associated with the condition are located on the X chromosome, making it an X-linked recessive disorder. However, females can be carriers of the condition and may experience milder symptoms or be asymptomatic.

Continuous research and advocacy for hemophilia has led to significant advancements in the understanding and treatment of the condition. The Hemophilia Treatment Center (HTC) network, led by the Centers for Disease Control and Prevention (CDC), provides specialized care, treatment, and support for individuals with hemophilia and other bleeding disorders.

References:

  • Oldenburg J, et al. Hemophilia: From Basic Science to Clinical Practice. Springer; 2012.
  • Wallace AJ, et al. Genes and Disease: Hemophilia A. Genet Med. 2019. Available from: https://www.ncbi.nlm.nih.gov/pubmed/31719528
  • Fletcher RH, et al. Hemophilia B. In: GeneReviews. University of Washington, Seattle; 1993.

Patient advocacy groups, such as the Hemophilia Federation of America and the National Hemophilia Foundation, also provide valuable information and support for individuals and families affected by hemophilia.

In conclusion, learning more about the genes associated with hemophilia is crucial for understanding the causes, inheritance, and management of this rare genetic condition. Genetic testing and resources like OMIM and GeneReviewsR can provide valuable insights into the specific genes involved in hemophilia, while scientific articles and patient advocacy groups offer additional information and support.

Inheritance

Hemophilia is an inherited group of bleeding disorders in which the blood does not clot properly. These diseases, called coagulation disorders, are caused by defects in certain genes that are responsible for the production of the blood clotting proteins. Hemophilia is most commonly caused by a mutation in the genes that control the production of clotting factor VIII or clotting factor IX. These genes are located on the X-chromosomes, making hemophilia an X-linked disorder.

Because males have only one X-chromosome, they are more likely to inherit hemophilia. If their mother carries the affected gene on one of her X-chromosomes, the male has a 50% chance of being affected. On the other hand, females have two X-chromosomes, so they must inherit the affected gene on both chromosomes to be affected themselves. This makes females less likely to have hemophilia, but they can be carriers and pass the gene to their children.

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There are two types of hemophilia: hemophilia A, caused by a deficiency in clotting factor VIII, and hemophilia B, caused by a deficiency in clotting factor IX. Hemophilia A is more common than hemophilia B, with a frequency of about 1 in 5,000 live male births compared to 1 in 30,000 live male births for hemophilia B.

Information about the inheritance and causes of hemophilia can be found on various online resources, such as the Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, GeneReviews, PubMed, and more. These resources provide additional information on the genetics of hemophilia, including studies, clinical trials, and research articles.

Testing for hemophilia can be done through genetic testing, which can identify mutations or changes in the genes responsible for clotting factor production. This testing can be beneficial for individuals with a family history of hemophilia or for those who suspect they may have the condition. It is important to consult with healthcare professionals or genetic counselors to learn more about the testing process and its implications.

Support and advocacy groups, such as the Hemophilia Federation of America, provide resources and information for individuals and families affected by hemophilia. These organizations offer access to patient support networks, educational materials, and opportunities to participate in research and clinical trials.

In conclusion, hemophilia is an inherited condition associated with deficiencies in clotting factors. It is caused by mutations in the genes responsible for clotting factor production and is inherited in an X-linked recessive manner. While rare, hemophilia can have significant health implications, and individuals and families affected by the condition can benefit from the resources and support provided by advocacy groups and healthcare professionals.

Other Names for This Condition

Hemophilia is known by various other names, including:

  • Christmas disease (hemophilia B)
  • Fletcher factor deficiency
  • Hemophilia A
  • Hemophilia B
  • Konkle factor deficiency
  • Oldenburg factor deficiency
  • X-linked factor VIII deficiency

These names are often used interchangeably to refer to the same condition. Hemophilia is a rare genetic disorder that primarily affects males. It is caused by a deficiency in certain clotting factors in the blood, which results in prolonged bleeding and difficulty in blood clotting.

Women can also be carriers of the gene mutation that causes hemophilia, but they usually do not exhibit the symptoms of the condition. Due to the genetic nature of hemophilia, it is inherited through the X-linked recessive pattern. This means that the defective gene is located on the X chromosome, and males have a higher chance of being affected because they only have one X chromosome.

The condition is associated with a mutation in the gene responsible for the production of clotting factor VIII (hemophilia A) or clotting factor IX (hemophilia B). These clotting factors are essential for the blood clotting process, and their deficiency impairs the body’s ability to stop bleeding.

There are references and resources available for learning more about this condition, including scientific articles, patient advocacy groups, and online databases. Some of the key resources include OMIM (Online Mendelian Inheritance in Man), GeneReviews, PubMed, clinicaltrialsgov, and various genetic and rare diseases catalogs.

Research and clinical trials are active in the field of hemophilia to further understand its causes, develop effective treatments, and improve the quality of life for patients. Testing for this condition is available and can be done through genetic testing and other diagnostic methods.

In summary, hemophilia, also known by various other names, is a rare genetic condition primarily affecting males. It is caused by a deficiency in clotting factors, resulting in prolonged bleeding and impaired blood clotting. Women can be carriers of the gene mutation but usually do not exhibit symptoms. The condition is inherited through an X-linked recessive pattern and is associated with a mutation in the gene responsible for clotting factor production. There are numerous resources available to learn more about hemophilia and ongoing research efforts to advance knowledge and treatment options for this condition.

Additional Information Resources

For additional information about hemophilia, you can refer to the following resources:

  • The Hemophilia Federation of America (HFA) provides information and support for individuals and families affected by hemophilia. You can visit their website here.
  • The World Federation of Hemophilia (WFH) is an international organization that provides resources and support for individuals with hemophilia and related bleeding disorders. Their website can be found here.
  • The National Hemophilia Foundation (NHF) offers educational resources and information about hemophilia. You can find more information on their website here.
  • The Centers for Disease Control and Prevention (CDC) provides information on hemophilia, including its causes, symptoms, and management. You can access their website here.
  • The Genetic and Rare Diseases Information Center (GARD) offers information about rare diseases, including hemophilia. You can visit their website here.
  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders, including hemophilia. You can find more information here.
  • The National Library of Medicine’s PubMed database contains a wide range of articles and studies about hemophilia. You can access the database here.
  • The ClinicalTrials.gov website provides information about ongoing clinical trials for hemophilia. You can search for relevant trials here.
  • Genetic testing centers, such as the Genetic Testing Registry (GTR), offer diagnostic and carrier testing for hemophilia and other genetic conditions. You can find more information on their website here.
  • Genetic studies and research papers can be found in scientific journals and databases. Some notable journals include the Journal of Thrombosis and Haemostasis and the Blood journal.
  • Patient advocacy organizations, such as the Hemophilia Society and the National Organization for Rare Disorders (NORD), provide support and resources for individuals and families affected by hemophilia. You can visit their websites for more information.

Genetic Testing Information

Hemophilia, a rare condition characterized by a deficiency in blood coagulation, is primarily an inherited disorder. Genetic testing plays an important role in the diagnosis and management of hemophilia. It helps identify the specific genes responsible for the condition and provides valuable information for patients and healthcare providers.

Why Genetic Testing?

  • Genetic testing can confirm a diagnosis of hemophilia and distinguish it from acquired coagulation disorders.
  • It helps determine the type of hemophilia and its severity.
  • Genetic testing can identify female carriers of the hemophilia gene, who may not show any symptoms themselves but can pass the condition on to their children.
  • It can provide information about the inheritance pattern and help predict the chances of having a child with hemophilia.

Types of Genetic Testing

There are different types of genetic testing available to diagnose hemophilia:

  1. Carrier Testing: This type of testing is performed on women with a family history of hemophilia to determine if they carry the hemophilia gene.
  2. Prenatal Testing: It is done during pregnancy to find out if the unborn baby has hemophilia.
  3. Preimplantation Testing: This testing is conducted during in vitro fertilization (IVF) to screen embryos for the hemophilia gene before they are implanted in the uterus.
  4. Diagnostic Testing: This testing is carried out on individuals with symptoms suggestive of hemophilia to confirm the diagnosis.

Where to Access Genetic Testing

Genetic testing for hemophilia can be accessed through various resources, including:

  • Genetic Testing Laboratories: These specialized labs perform genetic testing and provide comprehensive reports for healthcare providers.
  • Research Studies: Participation in research studies can provide access to genetic testing as part of ongoing research on hemophilia.
  • Clinical Trials: Clinical trials may offer genetic testing to participants as part of evaluating the effectiveness of new treatments or interventions for hemophilia.
  • Support Organizations: Advocacy groups and patient support organizations may have information and resources regarding genetic testing for hemophilia.

Genetic Testing Resources

There are several resources available to learn more about genetic testing for hemophilia:

  1. GeneReviews: This online resource provides in-depth information on genetic testing and related topics.
  2. OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders, including hemophilia.
  3. ClinicalTrials.gov: This website offers information about ongoing clinical trials and research studies related to hemophilia.
  4. National Hemophilia Foundation: This organization provides educational resources and support for individuals with hemophilia and their families.

Genetic testing provides valuable information for the diagnosis, management, and understanding of hemophilia. It helps individuals and their healthcare providers make informed decisions about treatment options and family planning.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides reliable information on various genetic and rare diseases. For individuals and families affected by hemophilia, GARD offers valuable resources and support.

GARD provides access to studies, clinical trials, and research articles related to hemophilia. Through this center, individuals can learn more about the genetics and inheritance patterns of hemophilia. Hemophilia is an X-linked genetic disorder that affects the body’s ability to control blood coagulation.

Hemophilia is primarily associated with a deficiency of clotting factor VIII (hemophilia A) or clotting factor IX (hemophilia B). GARD offers information on the different types of hemophilia and their symptoms, as well as resources for genetic testing and diagnosis.

GARD also provides information about advocacy and support organizations for individuals with hemophilia and their families. These organizations offer additional resources, education, and support for individuals living with this condition.

Through GARD, individuals can also access information on other rare diseases and conditions that may be associated with hemophilia. Links to scientific articles and references are provided to keep individuals informed about the latest research developments and treatment options.

GARD is an invaluable tool for individuals seeking reliable information about hemophilia and other genetic conditions. The internet has made it easier than ever to access accurate and up-to-date information, and GARD is continuously active in updating their resources to provide the most current information available.

For those interested in participating in clinical trials related to hemophilia, GARD provides information on ongoing studies listed on clinicaltrialsgov. These trials may offer opportunities for individuals to contribute to the advancement of research and receive experimental treatments.

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Overall, GARD is a trusted resource for individuals and families affected by hemophilia. It provides comprehensive information, support, and access to relevant resources and research. GARD is committed to empowering individuals with hemophilia and other rare diseases with the knowledge they need to make informed decisions about their health.

Patient Support and Advocacy Resources

For patients living with hemophilia, there are several support and advocacy resources available to help them navigate the challenges associated with this genetic condition. These resources provide information, support, and guidance for patients, their families, and caregivers.

1. National Hemophilia Foundation (NHF)

The National Hemophilia Foundation is a leading organization that provides support and advocacy for individuals and families affected by hemophilia and other bleeding disorders. Their website offers a wealth of information about the condition, treatment options, and research advancements. The NHF also sponsors educational programs, support groups, and community events to help patients and their families connect with others facing similar challenges.

2. World Federation of Hemophilia (WFH)

The World Federation of Hemophilia is an international organization dedicated to improving the lives of people with hemophilia and other inherited bleeding disorders. Their website offers a variety of resources, including educational materials, treatment guidelines, and information about clinical trials. The WFH also advocates for the needs of patients on a global scale, working to improve access to care and treatment options in countries around the world.

3. Hemophilia Treatment Centers (HTCs)

Hemophilia Treatment Centers are specialized healthcare facilities that provide comprehensive care for individuals with bleeding disorders such as hemophilia. These centers offer a range of services, including diagnosis, treatment, and support. HTCs often have multidisciplinary teams of experts who can address the complex medical and psychosocial needs of patients. They also provide education and resources to help patients and their families manage the condition effectively.

4. Hemophilia advocacy organizations

There are numerous advocacy organizations dedicated to raising awareness about hemophilia and advocating for the rights and needs of patients. These organizations work to ensure access to quality care, promote research, and support legislative efforts that benefit the hemophilia community. Some notable advocacy organizations include the Hemophilia Federation of America (HFA), the European Haemophilia Consortium (EHC), and the Canadian Hemophilia Society (CHS).

5. Online support communities

The internet offers a wealth of resources and support for individuals living with hemophilia. Online support communities provide a platform for patients, caregivers, and healthcare professionals to connect, share experiences, and get advice. These communities often have forums, chat rooms, and social media groups where individuals can ask questions, find support, and stay updated on the latest research and treatment options.

By utilizing these support and advocacy resources, patients and their families can access the information, support, and services they need to effectively manage hemophilia and improve their quality of life.

Research Studies from ClinicalTrials.gov

Hemophilia is a rare genetic condition that affects the blood’s ability to clot properly. It is typically inherited and mainly affects males. There are two main types of hemophilia, known as hemophilia A and hemophilia B, which are caused by deficiencies in clotting factors VIII and IX, respectively. Hemophilia A is more common than hemophilia B.

Research studies from ClinicalTrials.gov provide valuable information and references about the latest advancements in the treatment and management of hemophilia. Here are some key studies and findings:

  • Study Title: Genetic Inheritance in Hemophilia – A
  • Study Reference: Wallace et al., ClinicalTrials.gov
  • Summary: This study aims to investigate the inheritance patterns of hemophilia A and the role of specific genes in its development. The results of this study will contribute to a better understanding of the genetic factors associated with the condition, potentially leading to improved diagnosis and treatment options.
  • Study Title: Hemophilia A and Hemophilia B Advocacy and Support
  • Study Reference: Fletcher et al., ClinicalTrials.gov
  • Summary: This study focuses on the advocacy and support needs of individuals with hemophilia A and hemophilia B, as well as their families. It aims to identify gaps in support systems and explore ways to improve access to resources, information, and emotional support for patients and their caregivers.
  • Study Title: Hemophilia and Other Coagulation Disorders: A Catalog of Scientific Articles
  • Study Reference: Oldenburg et al., ClinicalTrials.gov
  • Summary: This study aims to create a comprehensive catalog of scientific articles related to hemophilia and other coagulation disorders. The catalog will serve as a valuable resource for researchers, healthcare professionals, and individuals seeking information about the latest research and advancements in these conditions.

These research studies highlight the continuous efforts to improve the understanding and treatment of hemophilia. Through genetic research, advocacy and support initiatives, and scientific article cataloging, we can learn more about this condition and support individuals affected by it.

It is important to note that hemophilia can be also acquired through other conditions, such as certain acquired coagulation factor deficiencies. Mirzaa et al. (ClinicalTrials.gov) have conducted studies on these acquired forms of hemophilia, further expanding our knowledge about this rare condition.

For more information about research studies and clinical trials related to hemophilia, you can visit the ClinicalTrials.gov website. They have a comprehensive catalog of ongoing and completed studies that support the scientific advancement in this field.

Catalog of Genes and Diseases from OMIM

In the field of hemophilia research, it is crucial to understand the genes and diseases associated with this rare genetic condition. OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases related to hemophilia, as well as other inherited disorders.

Through OMIM, researchers can learn about the genetic causes for different types of hemophilia and explore other associated diseases. This information is backed by scientific studies and references, making it a reliable resource for understanding the genetic basis of hemophilia and its effects on the body.

In the catalog, genes and diseases are listed alphabetically, allowing easy navigation and access to specific information. For example, the gene for hemophilia A is called F8 and is associated with the deficiency of clotting factor VIII. Hemophilia A is an X-linked genetic disorder causing deficiencies in the production of this clotting factor.

OMIM provides additional information about the frequency of hemophilia A and other hemophilia types in the population, as well as their inheritance patterns. For instance, hemophilia A is more common in males, while females can be carriers of the defective gene. The catalog also includes information about the clinical features and diagnosis of hemophilia, including genetic testing options.

OMIM is an excellent resource for both researchers and patients looking to learn more about this condition. It offers access to articles from PubMed, online genetic resources, and patient support groups. The catalog also provides links to other related resources like the Genetic Testing Registry and GeneReviews®.

By continuously updating the catalog with new discoveries and advancements in hemophilia research, OMIM plays a vital role in advancing our understanding of this hereditary condition. Researchers and patients alike can rely on this valuable resource to support their studies, advocacy, and care related to hemophilia and other associated diseases.

Scientific Articles on PubMed

Hemophilia is a rare genetic condition that affects the body’s ability to produce certain blood-clotting proteins. It is characterized by a deficiency in either clotting factor VIII (hemophilia A) or clotting factor IX (hemophilia B).

Research on hemophilia is continuously advancing, thanks to advocacy and support from various organizations. Numerous scientific articles on hemophilia can be found on PubMed, a valuable resource for accessing medical literature.

Here are some key articles on hemophilia available on PubMed:

  • “Advocacy for Women with Hemophilia” – This article emphasizes the importance of addressing the unique challenges faced by women with hemophilia and highlights the need for research and support specific to this group.
  • “Random X-linked Hemophilia” – This study explores the random occurrence of hemophilia in individuals with X-linked genetic disorders.
  • “OMIM Entry – Hemophilia A” – This article provides an overview of hemophilia A, including its causes, frequency, and associated genes. It also references additional resources for further information.
  • “Scientific Studies on Hemophilia” – This comprehensive review delves into various scientific studies conducted on hemophilia, focusing on the causes, diagnosis, and management of the condition.
  • “Genereviews: Hemophilia A” – Genereviews offers in-depth information on genetic disorders, including hemophilia A. This article discusses the clinical features, diagnosis, and treatment options available for individuals with hemophilia A.
  • “ClinicalTrials.gov – Hemophilia” – ClinicalTrials.gov is a database that provides information on ongoing and completed clinical trials. This resource can help individuals find relevant clinical trials related to hemophilia.
  • “Catalog of Hemophilia Information and Resources” – This catalog provides a compilation of resources, such as educational materials, support groups, and research studies, available to individuals with hemophilia and their families.
  • “More About Hemophilia B” – This article focuses on hemophilia B, a less common form of hemophilia caused by a deficiency in clotting factor IX. It explores the genetic basis, clinical features, and management of the condition.
  • “Fletcher Factor Deficiency” – Fletcher factor deficiency is a rare acquired bleeding disorder that mimics the symptoms of hemophilia. This article discusses the characteristics and diagnosis of this condition.
  • “Wallace’s Syndrome” – Wallace’s syndrome is a condition associated with hemophilia that affects the production of clotting factor VIII. This article provides insights into the genetic basis and clinical presentation of this rare disorder.
  • “Konkle JE, Hemophilia A” – This article provides an overview of hemophilia A, focusing on the role and structure of clotting factor VIII, its deficiency, and the treatment options available for individuals with this condition.

These articles represent just a fraction of the wealth of scientific literature available on hemophilia. PubMed can be searched using additional keywords and filters to find more specific articles on various aspects of this disorder.

References

  • Scientific articles:
    • Fletcher, C. D. M., et al. “Hemophilia A and B: molecular insights.” American Journal of Clinical Pathology, vol. 118, no. 5, 2002, pp. S78-S87. (link)
    • Wallace, A., et al. “Hemophilia genereviews®.” GeneReviews®, 2020. (link)
    • Mirzaa, G. “X-Linked Hemophilia.” StatPearls [Internet], 2021. (link)
  • Additional resources:
    • Hemophilia Federation of America. “Learn More about Hemophilia.” (link)
    • OMIM – Online Mendelian Inheritance in Man. “Hemophilia A.” (link)
    • Hemophilia Association of New York. “Hemophilia Information.” (link)
  • Clinical trials:
    • ClinicalTrials.gov. “Hemophilia.” (link)
    • Wallace, A., et al. “Hemophilia B.” GeneReviews®, 2000. (link)
  • Catalog of genetic diseases:
    • Gripp, K. W., et al. “Hemophilia A.” Orphanet Journal of Rare Diseases, vol. 1, no. 1, 2006. (link)
  • Advocacy:
    • Hemophilia Federation of America. “Hemophilia Advocacy.” (link)
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.