haemophilia


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
Related to haemophilia: Haemophilia C

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.

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 ?
Chris James, chief executive of the Haemophilia Society, said: "The fact that most people know little or nothing about bleeding disorders can cause real problems - especially for children.
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.
"Haemophilia B requires frequent injections, often two to three times a week, causing a major burden on individuals with the disorder," principal investigator Amy Shapiro said, adding that in a Phase I/IIa study, rFIXFc showed the potential to prolong protection from bleeding in severe, previously-treated patients with haemophilia B.
Management of haemophilia and its complications in developing countries.
As well as raising funds for the EHC, the Liberate Life Bike Ride also aims to build awareness about haemophilia and the benefits of an active life for people with the condition.
[27] It is particularly appropriate to use the Delphi method in rare diseases such as haemophilia for which prospectively generated data might take time or be difficult to collect, and particularly for questions that would be impractical to answer via other forms of research.
Udoh said that haemophilia was categorised into mild, moderate and severe type, and the common symptoms include; excessive post circumcision bleeding, excessive bleeding from cuts or injury.
No two people with haemophilia A are the same, and therapy should therefore reflect the characteristics and needs of each individual.
In conjunction, the ISTH Gene Therapy for haemophilia Steering Committee, led by Flora Peyvandi, MD, PhD and David Lillicrap, MD, was established to survey the global haemophilia healthcare community, identify unmet educational needs specific to gene therapy in haemophilia, to design a dynamic educational roadmap to guide the evolution of the gene therapy education programme.
In addition, the study showed that the increased prescription of neuroleptics and anti-depressants demonstrates that anxiety and depression are over-represented in people with haemophilia and underscores the importance of identifying and managing the broad population including non-frequent healthcare users.
Specialist said, Haemophilia occurs due to defective genes and currently there is no cure for the condition.
EMA has published revised guidelines on the tests and studies needed to support marketing authorisation applications for certain haemophilia medicines.