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Disease Profile
Hemophilia A
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
D66
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hemophilia, classic; HEM A; Classic hemophilia;
Categories
Blood Diseases
Summary
Hemophilia A is an
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
Bleeding with minor or no trauma |
Easy bleeding
|
0011889 |
Joint swelling | 0001386 | |
Reduced factor VIII activity | 0003125 | |
30%-79% of people have these symptoms | ||
Oral cavity bleeding |
Bleeding from mouth
|
0030140 |
Spontaneous hematomas | 0007420 | |
Thromboembolism | 0001907 | |
5%-29% of people have these symptoms | ||
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Intramuscular hematoma | 0012233 | |
Intraventricular hemorrhage | 0030746 | |
Joint hemorrhage |
Bleeding within a joint
Hemarthrosis
[ more ] |
0005261 |
1%-4% of people have these symptoms | ||
Splenic rupture |
Ruptured spleen
|
0012223 |
Percent of people who have these symptoms is not available through HPO | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Persistent bleeding after trauma |
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma
[ more ] |
0001934 |
Prolonged partial thromboplastin time | 0003645 | |
0001419 |
Cause
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
There is no cure for hemophilia A, but current treatments can prevent many of the symptoms of hemophilia A[4]. Treatment may include medications and replacing the missing clotting factor (replacement therapy). This type of replacement therapy is done by slowly injecting or dripping concentrated factor VIII into a vein (intravenous infusion). The type and frequency of treatment often depends on the severity of the disorder in each person.[2][5]
People with mild or moderate hemophilia A may be treated with replacement therapy as needed (for example, when a bleeding episode occurs). This is called ‘on-demand’ therapy. Some people with mild hemophilia A may be treated with desmopressin (DDAVP).[2][4] Desmopressin raises the levels of factor VIII in the blood and may be given directly into a vein or through a nasal spray. Drugs known as antifibrinolytics, which slow the breakdown of clotting factors in the blood, can also be used to treat a mild form of the disorder.[4]
Some people with severe hemophilia A may receive regular factor VIII replacement therapy to prevent bleeding episodes and other complications such as joint damage. This is referred to as
Infusions of replacement Factor VIII can be given at home. This is especially important for people with severe disease because the infusion works the best within one hour of a bleeding episode. In general, prompt treatment is important because it reduces pain and damage to the joints, muscles, or other affected
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Antihemophilic factor (recombinant), Fc fusion protein(Brand name: Eloctate) Manufactured by Bioverativ, a Sanofi Company
FDA-approved indication: November 2010, antihemophilic factor (recombinant), Fc fusionprotein (Eloctate) was approved for the treatment of adults and children with Hemophilia A (congenital Factor VIII deficiency) for control and prevention of bleeding episodes, perioperative management, and routine prophylaxis to prevent or reduce the frequency of bleeding episodes.
National Library of Medicine Drug Information Portal - Emicizumab-kxwh(Brand name: Hemlibra) Manufactured by Genentech
FDA-approved indication: October 2018, emicizumab-kxwh (Hemilibra) received expanded approval for the routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients ages newborn and older with hemophilia A (congenital factor VIII deficiency) without factor VIII inhibitors. In November 2017, it was approved for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients with hemophilia A (congenital factor VIII deficiency) with factor VIII inhibitors.
National Library of Medicine Drug Information Portal - Antihemophilic factor (recombinant)(Brand name: Kogenate FS) Manufactured by Bayer Corporation
FDA-approved indication: June 2000, Kogenate FS was approved for the treatment and prophylaxis of bleeding in patients with hemophilia A (not von Willebrand's disease).
National Library of Medicine Drug Information Portal - Coagulation Factor VIIa (Recombinant)(Brand name: NovoSeven RT) Manufactured by Novo Nordisk, Inc.
FDA-approved indication: March 2005, NovoSeven RT was approved for the prevention of bleeding in surgical interventions or invasive procedures in hemophilia A or B patients with inhibitors to Factor VIII or Factor IX. Previously in March 1999, NovoSeven RT was approved for the treatment of bleeding episodes in hemophilia A or B patients with inhibitors to Factor VIII or Factor IX. July 2014, NovoSeven RT was approved for the treatment of bleeding episodes and peri-operative management in adults and children with Glanzmann's thrombasthenia with refractoriness toplatelet transfusions, with or without antibodies to platelets.
National Library of Medicine Drug Information Portal - Moroctocog alfa(Brand name: ReFacto) Manufactured by Pfizer
FDA-approved indication: March 2000, moroctocog alfa (ReFacto) was approved for the control and prevention of hemorrhagic episodes and for surgical prophylaxis in patients with hemophilia A (congenital factor VIII deficiency or classic hemophilia).
National Library of Medicine Drug Information Portal - Desmopressin acetate(Brand name: Stimate) Manufactured by CSL Behring, LLC
FDA-approved indication: March 1994, desmopressin acetate (Stimate) was approved for the treatment of patients with hemophilia A or von Willebrand's disease (type I) whose factor VIII coagulant activity level is greater than 5%.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should include von Willebrand disease (see this term) and other coagulation anomalies leading to prolonged blood coagulation times.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Canadian Hemophilia Society
301-666 Sherbrooke Street West
Montreal, QC H3A IE7
Canada
Toll-free: 1-800-668-2686
Telephone: +1-514-848-0503
Fax: +1-514-848-9661
E-mail: [email protected]
Website: https://www.hemophilia.ca -
Hemophilia Federation of America (HFA)
999 N. Capitol St. NE, Suite 201
Washington, DC, 20002
Telephone: +1-202-675-6984
Fax: +1-202-675-6983
E-mail: [email protected]
Website: https://www.hemophiliafed.org/ -
National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 1-800-42-HANDI
Telephone: +1-212-328-3700
Fax: +1-212-328-3777
E-mail: [email protected]
Website: https://www.hemophilia.org/ -
World Federation of Hemophilia
1425 Rene Levesque Blvd. W.
Bureau 1200
Montreal, Quebec H3G 1T7
Canada
Telephone: +1-514-875-7944
Fax: +1-514-875-8916
E-mail: [email protected]
Website: https://www.wfh.org/en/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The American Society of Gene & Cell Therapy provides information on the treatment of hemophilia.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Hemophilia A. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hemophilia A. Click on the link to view a sample search on this topic.
References
- Hemophilia. Genetics Home Reference. August, 2012; https://ghr.nlm.nih.gov/condition/hemophilia. Accessed 11/19/2018.
- Konkle BA, Huston H, Fletcher SN. Hemophilia A. GeneReviews. June 22, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1404/.
- Drelich DA. Hemophilia A. Medscape Reference. Sept 10, 2018; https://emedicine.medscape.com/article/779322-overview.
- Robert A Zaiden. Hemophilia A. Medscape. November 7, 2014; https://emedicine.medscape.com/article/779322-overview.
- Hemophilia A. NORD. Updated 2015; https://rarediseases.org/rare-diseases/hemophilia-a/.
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