hemophilia A

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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 A

[MIM*306700-various]
hemophilia due to deficiency of factor VIII; an X-linked recessive condition, occurring almost exclusively in male humans and also affecting several breeds of dogs, characterized by prolonged clotting time, decreased formation of thromboplastin, and diminished conversion of prothrombin.
Synonym(s): classic hemophilia

hemophilia A

Classical hemophilia, factor VIII deficiency hemophilia Hematology An X-R coagulopathy due to a marked ↓ of factor VIII Physiology Factor VIII circulates as a noncovalent complex with von Willebrand factor, which once cleaved by thrombin or by factor Xa enables factor VIII to bind to phospholipid surfaces of damaged cells and adherent activated platelets Clinical Hemophilia A is heterogenous as moderate–1—4% normal; or mild–5—25% normal factor VIII deficiency occurs; classic findings–joint hemorrhage of knee > elbow >etc, muscle hemorrhage, bruising, prolonged and potentially fatal post-traumatic or post-op hemorrhage Lab Normal platelets, normal prothrombin time, ↑ aPTT, ↓ factor VIII Treatment Recombinant factor VIII. See AIDSgate, Factor VIII.

he·mo·phil·i·a A

(hē'mō-fil'ē-ă)
The inherited blood disorder resulting from a deficiency of factor VIII, occurring almost exclusively in males, and characterized by prolonged clotting time, decreased formation of thromboplastin, and diminished conversion of prothrombin.
Synonym(s): classic hemophilia, haemophilia A.

Hapsburg,

Austrian royal family who ruled most of central and part of western Europe for centuries.
disease of the Hapsburgs - factor VIII deficiency causing blood coagulation disorder. Synonym(s): classic hemophilia; hemophilia A

he·mo·phil·i·a A

(hē'mō-fil'ē-ă) [MIM*306700-various]
Blood disorder due to deficiency of factor VIII; occurring almost exclusively in male humans characterized by prolonged clotting time, decreased formation of thromboplastin, and diminished conversion of prothrombin.
Synonym(s): classic hemophilia, haemophilia A.
References in periodicals archive ?
Male patients between 2-70 years of age with known Haemophilia A on treatment for last 1 year with a factor VIII level activity between 0-45 units/di were included in the study.
Out of this factor VIII deficiency was observed in 30 (75%) patients (Haemophilia A), while 10 (25%) patients were deficient in Factor IX (Haemophilia B); 35 children were having severe haemophilia, whereas 5 children were moderate haemophiliac (Table 1).
Ludlam, "Thrombosis in a duplicated superficial femoral vein in a patient with haemophilia A," Haemophilia, vol.
The EC approval of Elocta on 19 November 2015 was based on data from the pivotal phase 3 A-LONG clinical study which demonstrated the efficacy, safety and pharmacokinetics ofElocta in previously treated males 12 years of age andolder with severe haemophilia A, and from the phase 3 KidsA-LONG clinical study, which demonstrated the efficacy and safety of Elocta in previously treated boys withhaemophilia A under 12 years of age.
[7] However, since the publication of the sequence of the factor VIII gene in 1984, a large number of mutations that cause haemophilia A have been identified and have provided an avenue for confirmatory genetic testing.
While this patient was discovered to have haemophilia A, similar reports have been documented in patients with haemophilia B.
Factor IX inhibitors are far less common (occurring in 2 - 3% of boys with haemophilia) B than haemophilia A, but they are accompanied by the occurrence of anaphylaxis or severe allergic reactions to any factor IX - containing product.10 Screening for inhibitors is normally conducted by Bethesda - based method.11 Clinical and laboratory data from haemophilia treatment center in Lahore is presented with the purpose to gather and propagate information regarding, clinical manifestation, time of presentation and potentially life - threatening complication in association with severity of haemophilia B.
(8.) Oldenburg J, Picard JK, Schwaab R, Brackmann HH, Tuddenham EG, Simpson E: HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII.
Carrier detection and prenatal diagnosis in Haemophilia A and B.
Reportedly, the CHMP recommends Esperoct, the brand name for turoctocog alfa pegol, N8-GP, to be indicated for prophylaxis and on-demand treatment of bleeding as well as for surgical procedures in adolescents (>=12 years of age) and adults with haemophilia A (congenital factor VIII deficiency).
Global Banking News-April 29, 2019-Novo Nordisk announces receipt of positive opinion from CMPH for Esperoct for the treatment of haemophilia A in Europe