haemophilia


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Related to haemophilia: Haemophilia C

haemophilia

he·mo·phil·i·a

(hē'mō-fil'ē-ă)
An inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhages, spontaneous or traumatic, due to a defect in the blood coagulating mechanism.
Synonym(s): haemophilia.
[hemo- + G. philos, fond]

haemophilia

An X-linked recessive blood clotting disorder causing a life-long tendency to excessive bleeding. It cannot be passed from father to son because the father transmits only the Y chromosome to his sons. All the daughters of a haemophilic man are carriers of the gene but do not suffer the disease. There is a 50% chance that each of their sons will be a haemophiliac. Females can acquire the disease only if both X chromosomes carry the gene. Haemophilia A is due to the absence of Factor VIII, one of the coagulation factors. Haemophilia B (Christmas disease) is due to deficiency of Factor IX. Both feature bleeding, either spontaneous or on minor trauma, most commonly into the joints. This causes severe pain, swelling and muscle spasm. Repeated episodes lead to damage and severe joint disability. Tooth extraction or external injury are followed by prolonged bleeding. Spontaneous bleeding may occur into the bowel. Haemophilia is treated by repeated injections of Factor VIII or IX obtained from donated blood.

haemophilia

a rare human blood disorder in which BLOOD CLOTTING is deficient, resulting often in severe bleeding internally and externally. The condition is due to a lack of fibrin in the blood and is controlled by two closely linked genes on the X-CHROMOSOME that are responsible for the production of different clotting factors. Haemophilia A individuals lack antihaemophilic globulin (AHG) while haemophilia B individuals lack plasma thromboplastin. Males carrying the mutant ALLELE of either locus or (much more rarely) females homozygous for the recessive mutant alleles of either locus will be affected, although heterozygous females have normal blood. Haemophilia A is by far the most common form of the disease (about 80%) and can be treated by transfusions of AHG.

haemophilia

inherited coagulation cascade disorder, characterized by lifelong tendency to haemorrhage
  • haemophilia A; HA deficiency of factor VIII; X-linked recessive condition, expressed almost exclusively in males; characterized by delayed clotting (decreased formation of thromboplastin and reduced conversion of prothrombin)

  • haemophilia B; HB; Christmas disease see disease, Christmas

  • vascular haemophilia; von Willebrand's disease see disease, von Willebrand's

he·mo·phil·i·a

(hē'mō-fil'ē-ă)
Inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhages, spontaneous or traumatic, because of a defect in the blood-coagulating mechanism.
Synonym(s): haemophilia.
[hemo- + G. philos, fond]
References in periodicals archive ?
During our visit it became clear that the impact of haemophilia on patients' lives in South India was significant.
The approval is based on two of the largest pivotal clinical studies in people with haemophilia A with inhibitors, in which Hemlibra demonstrated superior efficacy compared to prior treatment with bypassing agents (BPA) as prophylaxis or on-demand.
Study population included all children with haemophilia less than 18 years of age attending the haemophilia clinic.
Sobi and Biogen are collaboration partners in the development and commercialisation of Elocta for haemophilia
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.
Haemophilia is a collection of coagulopathies where the affected individual is unable to produce the correct protein factors required for blood clot formation, resulting in prolonged or intensive episodes of bleeding.
Noncatheter-related internal jugular vein thrombosis in a patient with severe haemophilia A.
Post circumcision bleeding was found to be the most common first episode of bleeding in patients of haemophilia B 29 (64.
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.
A Canada High Commission release said the event will provide physicians, nurses and families of patients suffering from haemophilia with important information about the diagnosis and management of the disease and will help raise the profile of haemophilia within the Delhi medical community.
The management of haemophilia in developed countries has proceeded through hospital treatment, home therapy, secondary prophylaxis to most costly but very effective primary prophylaxis.
Around 50 people with haemophilia in Ireland have used plasma from the UK.