title: [Genetic profile of Glanzmann's thrombasthenia in south Tunisia. Report of 17 cases (11 families)].
abstract: BACKGROUND
  Glanzmann's thrombasthenia (GT) is a rare congenital thrombopathy, with a recessive autosomal transmission. We present here the genealogic study of a series of patients suffering from GT.
  
  
  METHODS
  This is a retrospective study about all the GT patients treated in Sfax hematology department during 18 years. Final diagnosis was established by agregometry. Genealogic study was based on clinical history.
  
  
  RESULTS
  17 cases of GT from 11 families from the south of Tunisia wen collected. The disease was paricularly frequent in the region of Moulares-Gafsa (7 patients). The percentage of consanguinity was also very high (82%), with a third degree consanguinity of 86%. Family investigation revealed 6 previously unknown cases, and 10 deaths subsequent to hemorrhagic manifestations.
  
  
  CONCLUSIONS
  The high rate of consanguinity, the absence of clinical or biological manifestations in the parents, and the ratio of ill to normal subjects in the same family which was about one to four, are suggestive of an autosomal recessive mode of transmission.
authors.affiliation: Service d'hématologie, Hôpital Hédi Chaker-Sfax, Tunis.
authors.forename: Nada
authors.initials: N
authors.lastname: Ben Aribia
authors.forename: Sondes
authors.initials: S
authors.lastname: Mseddi
authors.forename: Moez
authors.initials: M
authors.lastname: Elloumi
authors.forename: Choumous
authors.initials: C
authors.lastname: Kallel
authors.forename: Radhia
authors.initials: R
authors.lastname: Kastally
authors.forename: Taoufik
authors.initials: T
authors.lastname: Souissi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies; D013915:Thrombasthenia / Q000453:epidemiology / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology