Hemophilia A

Title

Other Names:

Hemophilia, classic; HEM A; Classic hemophilia; Hemophilia, classic; HEM A; Classic hemophilia; Factor 8 deficiency; Factor VIII deficiency; Classical hemophilia; Haemophilia A; Hemophilia A, congenital See More

Categories:

Blood Diseases

This disease is grouped under:

Hemophilia

Summary Summary

Hemophilia A is a bleeding disorder in which the blood does not clot normally. People with this disorder have prolonged bleeding or oozing after an injury, surgery, or tooth extraction. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. In milder forms there is no spontaneous bleeding, and the disorder may not become apparent until after a surgery or serious injury. Hemophilia A is inherited in an X-linked recessive manner and is caused by changes (mutations) in the F8 gene.^[1] The main treatment is called replacement therapy, during which clotting factor VIII is dripped or injected into a vein.^[2]

Last updated: 3/18/2015

Symptoms 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.

Showing of 18 |

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 susceptibility	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
X-linked recessive inheritance		0001419

Showing of 18 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2018

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Hemophilia A is inherited in an X-linked recessive pattern. This means that Hemophilia A nearly always affects males. Females who have the Hemophilia A gene mutation are called carriers. Most carriers have no signs or symptoms, however about 10% of female carriers experience some abnormal bleeding, particularly after an injury, surgery, or tooth extraction.^[3]

Family history is an important tool for assessing family members risks for hemophilia A and carrier status. For example, when a woman has one affected child and another affected male relative (e.g., a sibling), it is assumed that she is a carrier. In this scenario, each of the woman's children would have a 1 in 2 or 50% chance of inheriting the gene mutation. Sons who inherit the gene mutation are affected, daughter's who inherit the mutation are carriers. Click here to view an example of how an X-linked recessive condition may run in a family if the mother is a carrier.

When a male child is the first and only person in a family with hemophilia A, further testing may be needed to determine if the child inherited the condition from his mother, or if the mutation occurred by chance for the first time in the child. In this scenario, the mother has an estimated 80% chance (or higher) to be a carrier for hemophilia A.^[4] Once the mother's carrier status is known, risks to siblings can be determined.

When a father has hemophilia A, none of his sons will inherit the condition, but all of his daughters will be carriers. Click here to view an example of how an X-linked recessive condition may run in a family if the father has Hemophilia A.

These are just a few examples of how hemophilia A might run in a family. If you have questions about your or your loved one's risks for hemophilia A, we strongly recommend that you discuss your concerns with a genetics professional. Information about finding and visiting a genetics professional is available from the Genetic Consultation Handbook developed by Genetics Home Reference. To find a genetics professional, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community:

GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
The American College of Medical Genetics has a searchable database of US genetics clinics.
The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.

Last updated: 8/20/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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 Treatment

People with inherited hemophilia A require life-long care, preferably through a specialized hemophilia treatment center. Although there is no cure for hemophilia A, current treatments usually work well. Treatment primarily consists of replacing the missing clotting factor VIII (replacement therapy) and preventing complications that are associated with the disorder. The type and frequency of treatment often depends on the severity of the disorder in each person.

People with mild or moderate hemophilia A may be treated with replacement therapy as needed (for example, when a specific bleeding episode occurs). This is called episodic therapy. Some people with mild hemophilia A may be treated with desmopressin (DDAVP). Desmopressin raises the levels of factor VIII in the blood and may be taken intravenously 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 those with a mild form of the disorder.

Some people with severe hemophilia A may receive periodic factor VIII infusions to prevent bleeding episodes and associated complications such as joint damage. This is referred to as prophylactic therapy.

People can be trained to give infusions 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, rapid treatment is important because it reduces pain and damage to the joints, muscles or other affected tissues or organs.^[5]

Last updated: 3/19/2015

Management Guidelines

The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and carriers of hemophilia A and B. Click on the link to view the guidelines.

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 Biogen Idec Inc.
FDA-approved indication: 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: 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: 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: Treatment of bleeding episodes in patients with Factor VII Deficiency. Treatment and peri-operative management of Glanzmann's thrombasthenia with refractoriness to platelet transfusions, with or without antibodies to platelets.
National Library of Medicine Drug Information Portal
Antihemophilic factor (recombinant) (Brand name: ReFacto®) - Manufactured by Wyeth Pharmaceuticals, Inc.
FDA-approved indication: 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
Medline Plus Health Information
Desmopressin acetate (Brand name: Stimate) - Manufactured by CSL Behring, LLC
FDA-approved indication: 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

Prognosis Prognosis

Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in an affected person's blood. However, about 70% of patients have the severe form of the disorder.^[6]

With appropriate education and treatment, people with hemophilia can live full and productive lives. Prophylaxis (preventive measures) and early treatment have dramatically improved the long-term outlook (prognosis) for people with severe hemophilia. Replacement therapy has significantly improved life expectancy, and the availability of therapy at home has improved quality of life. About 25% of people with severe disease between 6-18 years of age do have below-normal motor skills and academic performance, and have more emotional and behavioral problems than others.^[7]

The most important life-threatening complications of hemophilia are intracranial hemorrhage (bleeding within the skull) and hemorrhages into the soft tissue around vital areas (such as the airway or internal organs). The lifetime risk of intracranial bleeding in affected people is 2-8% and accounts for one third of deaths due to hemorrhage. About 10% of those with severe hemophilia have intracranial bleeding, with a mortality rate of 30%. Chronic, debilitating joint disease can also develop.^[7]

Overall, the mortality rate for affected people is about twice that of the healthy male population. For severe hemophilia, the rate is about 4-6 times higher. In some cases the mortality rate depends on whether any other underlying diseases or conditions are present.^[7]

Last updated: 3/19/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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 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
400-1255 University St
Montreal, QC H3B 3B6
Canada
Toll-free: 800-668-2686
Telephone: 514-848-0503
Fax: 514 848-9661
E-mail: chs@hemophilia.ca
Website: http://www.hemophilia.ca
Hemophilia Federation of America (HFA)
820 First Street NE, Suite 720
Washington, DC, 20002
Toll-free: 800-230-9797
Telephone: 202-675-6984
Fax: 202-675-6983
E-mail: http://www.hemophiliafed.org/contact-us/
Website: http://www.hemophiliafed.org/
National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 800-42-HANDI
Telephone: 212-328-3700
Fax: 212-328-3799
E-mail: handi@hemophilia.org
Website: http://www.hemophilia.org/
World Federation of Hemophilia
1425 Rene Levesque Blvd. W.
Suite 1010
Montreal, Quebec H3G 1T7
Canada
Telephone: 514-875-7944
Fax: 514-875-8916
E-mail: wfh@wfh.org
Website: http://www.wfh.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

Patient Services, Inc (PSI) provides financial support and guidance for qualified patients with specific chronic diseases. PSI helps patients find solutions to the social and economic problems confronting patients with chronic conditions.

Learn More 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.
Genetics Home Reference (GHR) contains information on Hemophilia A. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.

News & Events News & Events

News

FDA Approves New Treatment to Prevent Bleeding in Certain Patients with Hemophilia A
January 23, 2018
World Federation of Hemophilia
July 19, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What kind of medical assistance will a child with hemophilia A need? Will further assistance be needed as the child grows older? What is the long-term outlook for the child? See answer
I have severe hemophilia. How often do genetic mutations for severe hemophilia A occur - in caucasians, in women, and in America? How common is type A versus type B or other types? How common is the severe form as opposed to the moderate or mild forms? See answer

Have a question? Contact a GARD Information Specialist.