haemophilia


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
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 ?
in previously treated patients with haemophilia A from 19 countries who had been enrolled in the pivotal guardian(TM)1 and guardian(TM)3 trials.
Sobi and Biogen are partners in the development and commercialisation of Elocta/Eloctate/rFVIIIFc for haemophilia A.
Carl is passionate about changing the image of how others see haemophilia and people living with the condition.
Haemophilia Therapeutics Market - Epidemiology and Patient Forecasts
World Haemophilia Day is targeted to stepping up awareness of haemophilia and other bleeding disorders.
In 2009, the Paediatric Bleeding Disorders Program at the Health Sciences Centre, Winnipeg, Canada joined a twinning program with the Haemophilia Society (Delhi) and initiated a four-year partnership.
Management of haemophilia and its complications in developing countries.
Haemophilia Phase 2 Clinical Trial Pipeline Insights
The importance of the comprehensive haemophilia care worldwide has been further emphasized this year by the WFH, when this theme has been chosen for the World Haemophilia Day 2009 (17 April).
Haemophilia Preclinical Research Drug Pipeline Insights
The pivotal guardian(TM) clinical programme is one of the largest and most comprehensive preregistration clinical trial programmes in haemophilia, with more than 210 patients with severe haemophilia A treated.
Drive revenues by understanding key trends, innovative products and technologies, market segments and companies likely to impact the global haemophilia market in future.