hemophilia B


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Related to hemophilia B: Hemophilia C, Von Willebrand disease

hemophilia

 [he″mo-fil´e-ah]
a hereditary disorder characterized by a strong tendency to bleed. The most common types are carried as sex-linked genes with females carrying the trait and disease manifestations almost always in males. (Occasionally, women carrying the trait for hemophilia A or B have bleeding manifestations themselves, probably as a result of nonrandom inactivation of their X chromosomes and overexpression of the X chromosome coding for hemophilia; these women are referred to as symptomatic carriers.) All daughters of affected men will be carriers for the gene of hemophilia.

The two most common types are hemophilia A and hemophilia B. Over 80 per cent of patients have hemophilia A (classical hemophilia), which is characterized by a deficiency of coagulation factor VIII. Hemophilia B (called also Christmas disease) affects about 15 per cent of hemophiliacs and is characterized by a deficiency of coagulation factor IX. Other coagulation factor deficiencies are less common, with patients suffering either milder bleeding or thrombotic episodes.
Symptoms. Bleeding in hemophilic patients is variable, depending on the level of deficiency of the clotting factor. Approximately 60 per cent of persons with hemophilia A or B are severely affected and may have spontaneous bleeding without any recognized trauma. Soft tissue bleeding from the neck, lower face, and tongue may cause grave consequences if not treated. Hematuria and gastrointestinal bleeding are likely, and hemarthrosis (bleeding into joints) can lead to painful stiffening and permanent disability. The leading cause of death, however, is intracranial bleeding. Hemorrhagic complications can be avoided or minimized with early and adequate factor replacement therapy.

Hemophilia A is characterized by a factor VIII level of from 0 to 30 per cent of normal. The partial thromboplastin time (PTT) is usually prolonged. The platelet count, bleeding time, and prothrombin time (PT) are normal. In hemophilia B there is a low factor IX level and the prothrombin time is usually prolonged.
Treatment. The treatment of persons with hemophilia depends on the severity of their disease and the nature of a given bleeding episode. Several therapeutic materials are available for correction of the clotting defect in hemophilia A. Factor VIII is present in commercial lyophilized factor VIII concentrates, cryoprecipitate, fresh whole blood, and fresh frozen plasma. Purified factor VIII concentrate, however, is the treatment of choice. Successful treatment of those with mild hemophilia A can often be done with desmopressin (DDAVP). While factor IX is present in fresh frozen plasma, it is not concentrated in cryoprecipitate, so that the latter is not useful for treatment of hemophilia B. Factor IX is present in two commercially prepared concentrates, known as factor IX complex concentrates and coagulation factor IX concentrates.

All persons with hemophilia should be immunized with hepatitis B vaccine. Suspected bleeding into the central nervous system must be promptly treated; when this happens, consultation with or transfer to a Hemophilia Treatment Center is mandatory. Early treatment of hemarthroses is essential for maintenance of joint health; infusions administered within 4 to 6 hours of onset of symptoms are sufficient to stop bleeding and restore joint function. Medically supervised home infusion therapy has become an integral part of the comprehensive care of patients with bleeding disorders and has facilitated the treatment of bleeding episodes outside the hospital setting.
Patient Care. Advances in therapy have greatly improved the prognosis and management of hemophilia, but new issues have emerged, including the impact on immune status of purer factor concentrates, escalating financial considerations, and therapeutics for infections with hepatitis B, hepatitis C, and the human immunodeficiency virus. Multidisciplinary comprehensive care that incorporates patient and family educational strategies continues to be an essential element of care. Surgery and dental care require a team approach by individuals with specialized knowledge and expertise, in order to ensure favorable outcomes. A diagnosis of hemophilia presents many challenges, not the least of which are psychosocial issues.

Excellent sources of information for both professionals and nonprofessionals are the National Hemophilia Foundation, 110 Greene St., Suite 303, New York, NY 10012 (telephone 212-219-8180) and the Hemophilia and AIDS/HIV Network for the Dissemination of Information (“HANDI”) at the same address (telephone 800-42-HANDI).
hemophilia A classical hemophilia, a sex-linked condition due to deficiency of coagulation factor VIII; see hemophilia.
hemophilia B a form similar to hemophilia A but due to a deficiency of coagulation factor IX; called also Christmas disease. See hemophilia.
hemophilia C an inherited disorder caused by a lack of coagulation factor XI.. It has been observed mostly in persons of Ashkenazi Jewish ancestry and is characterized by recurring episodes of minor bleeding and mild bruising, severe prolonged bleeding after surgical procedures, and prolonged recalcification and partial thromboplastin times. Called also plasma thromboplastin antecedent deficiency, PTA deficiency, and Rosenthal syndrome.

he·mo·phil·i·a B

[MIM*306900-various]
a clotting disorder resembling hemophilia A, caused by hereditary deficiency of factor IX; also seen as an X-linked recessive condition in the Cairn terrier breed of dogs.
Synonym(s): Christmas disease
An X-linked recessive hemophilia, seen in 1/50,000 men, due to a defect in coagulation factor IX
Management Factor IX concentrates

hemophilia B

Christmas disease, factor IX hemophilia Hematology An X-R form of hemophilia caused by a defect in factor IX; it is clinically similar to hemophilia A, and often first manifest by hemarthrosis with joint destruction; these Pts are often infected with blood-borne viruses–eg, HBV, HCV, HIV, parvoviruses; with time, IgG antibodies may develop against factor IX. See Hemophilia. Cf Thalassemia.

he·mo·phil·i·a B

(hē'mō-fil'ē-ă)
A clotting disorder resembling hemophilia A, caused by hereditary deficiency of factor IX.
Synonym(s): Christmas disease, haemophilia B.

Christmas,

Stephen, patient with the first case of this disease studied in detail.
Christmas disease - a clotting disorder caused by hereditary deficiency of factor IX. Synonym(s): hemophilia B
Christmas factor - Synonym(s): factor IX coagulation factor

he·mo·phil·i·a B

(hē'mō-fil'ē-ă) [MIM*306900-various]
Clotting disorder resembling hemophilia A, caused by hereditary deficiency of factor IX.
Synonym(s): Christmas disease, haemophilia B.

Patient discussion about hemophilia B

Q. A christmas wish for each of you! To have all the presents in the world is not my desire for you! May your Christmas gift from me today be a sincere prayer that you will know: Peace that makes you sleep like a baby Joy that makes you laugh like a fool Happiness that lets you forget the size of your problems Hope that makes impossible dreams come true Love that makes you give from your heart Forgiveness when ‘you know not what you do”! Kindness that brings favor wherever you go And health that makes you act the age you choose.

A. Happy Christmas, everybody.. May all the joy of this wonderful season follow our life in upcoming year ahead..
Stay healthy always..

More discussions about hemophilia B
References in periodicals archive ?
The proposed clinical trial will improve the understanding of how advanced technologies, such as gene therapy for hemophilia B, can move rapidly to countries with limited resources.
Review of the literature of feiba administration in patients with hemophilia B and inhibitors.
Oral delivery of bioencapsulated coagulation factor IX prevents inhibitor formation and fatal anaphylaxis in hemophilia B mice.
% Hemophilia A n=224 130 51.18% 60 23.62% 34 13.38% Hemophilia B n=30 16 6.29% 10 3.93% 4 1.57% TABLE 4: TYPES OF BLEEDING AMONG THE HEMOPHILIC PATIENTS (N=254) Hemophilia A Hemophilia B N=224 N=30 No.
At present there are 130 families with Hemophilia A and 30 families with Hemophilia B registered.
* The report provides a snapshot of the global therapeutic landscape of Hemophilia B
The hemophilia B programme, which consists of an adeno-associated viral (AAV) vector containing the human factor IX gene, is being evaluated in a Phase I/II trial.
If they succeed with such animal experiments, researchers could begin human trials of gene therapy for hemophilia B. If gene therapy can coax human livers to produce even modest amounts of clotting factor, people with hemophilia could cut down on or even eliminate their routine injections of clotting factor, Brinkhous notes.
Hemophilia B is a chronic and inherited bleeding disorder that affects approximately 5,000 people in the U.S.1 People with hemophilia B have deficient blood clotting factor IX activity that results in prolonged or spontaneous bleeding, especially into the muscles, joints or internal organs.
Novo Nordisk today announced the first results from the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study, which found that many adults and children living with even mild or moderate hemophilia B in the United States experience a negative impact on their career, education and recreational activities as a result of the disorder.
Bayer HealthCare today announced that a Phase II/III trial evaluating the efficacy and safety of BAY 86-6150 in people with hemophilia A and hemophilia B with inhibitors has been discontinued.
The investigational compound BAY 86-6150, is a novel recombinant factor VIIa (rFVIIa) protein for potential use in patients with hemophilia A or hemophilia B who have developed neutralizing antibodies called inhibitors.