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English Abstract
Journal Article
[Clinics and genetics of Glanzmann's thrombasthenia (author's translation)].
Glanzmann's thrombasthenia begins in infancy. The most important clinical signs are cutaneous and mucous hemorraghes (purpura, epistaxis, bleeding gums, menorraghia after puberty). The disease proceedes by alternate periods of activity and remission, the frequency and severity of which decrease with age. Death occurred during any of the attachs. Our 10 cases (7 girls, 3 boys) were in 5 "Manouche" gypsies sibships, interrelated by consanguineous marriages. Genetic studies demonstrated that the disease was inherited in the autosomal recessive pattern. The detection of heterozygotes is now possible with an antibody which appeared in a thrombasthenic patient. This antibody agglutinated the normal platelets, but not the ones of thrombasthenic patients. In heterozygotes the agglutinating effects is intermediate between the homozygote and normal.
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