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Disease Profile

Hemophilia B

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

D67

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Christmas disease; Factor IX deficiency; HEM B

Categories

Blood Diseases

Summary

Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene.[719]

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
Cephalohematoma
0012541
Delayed onset bleeding
0040232
Hematuria
Blood in urine
0000790
Intracranial hemorrhage
Bleeding within the skull
0002170
Intramuscular hematoma
0012233
Joint hemorrhage
Bleeding within a joint
Hemarthrosis

[ more ]

0005261
Menometrorrhagia
0400008
Poor wound healing
0001058
Prolonged bleeding after dental extraction
0006298
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery

[ more ]

0004846
Prolonged bleeding time
0003010
Prolonged partial thromboplastin time
0003645
Reduced factor IX activity
0011858
Spontaneous, recurrent epistaxis
Recurring nosebleed
Spontaneous, recurrent nosebleed

[ more ]

0004406
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding
Bleeding tendency
0001892
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
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 whole-blood clotting time
0005542
X-linked recessive inheritance
0001419

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

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.

    • Coagulation Factor IX (human)(Brand name: AlphaNine) Manufactured by Alpha Therapeutic Corporation
      FDA-approved indication: For use as replacement therapy in patients with hemophilia B for the prevention and control of bleeding episodes and during surgery to correct defective hemostasis.
      National Library of Medicine Drug Information Portal
    • Coagulation factor IX (recombinant), Fc fusion protein(Brand name: Alprolix) Manufactured by Biogen Idec Inc.
      FDA-approved indication: Adults and children with Hemophilia B 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
    • Coagulation Factor IX (Recombinant)(Brand name: BeneFix®) Manufactured by Wyeth Pharmaceuticals, Inc.
      FDA-approved indication: For the control and prevention of hemorrhagic episodes in patients with hemophilia B (congenital factor IX deficiency and Christmas disease), including control and prevention of bleeding in surgical settings.
      National Library of Medicine Drug Information Portal
    • Coagulation Factor IX(Brand name: Mononine) Manufactured by CSL Behring, LLC
      FDA-approved indication: Prevention and control of bleeding in factor IX deficiency, also known as hemophilia B or Christmas 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 to platelet transfusions, with or without antibodies to platelets.
      National Library of Medicine Drug Information Portal
    • Recombinant fusion protein linking coagulation factor IX with albumin(Brand name: rIX-FP) Manufactured by CSL Behring, LLC
      FDA-approved indication: Indicated for the (1) on-demand control and prevention of bleeding episodes, (2) perioperative management of bleeding, and (3) routine prophylaxis to prevent or reduce the frequency of bleeding episodes.
    • Coagulation factor IX (recombinant)(Brand name: Rixubis) Manufactured by Baxter Healthcare Corporation
      FDA-approved indication: Adults with Hemophilia B for routine prophylaxis to prevent or reduce the frequency of bleeding episodes.
      National Library of Medicine Drug Information Portal

    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

      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 B. 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.
        • 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 B. Click on the link to view a sample search on this topic.