title: [Creation and report of the Tunisian Fanconi Anemia Registry (TFAR)].
abstract: BACKGROUND
  Fanconi anemia (FA) is a genetically and phenotypically heterogeneous inherited disease. Many groups have established FA registries. In Tunisia, in collaboration with the Tunisian Fanconi Anemia Study Group (TFASG), we set up the Tunisian Fanconi Anemia Registry (TFAR).
  
  
  METHODS
  We contacted all hematology and pediatrics departments to include their FA patients diagnosed between January 1983 and December 2008. The registry is available on the TFASG web site (www.fanconi-tunisie.net).
  
  
  RESULTS
  Sorting the files brought out 142 patients belonging to 118 families. The mean age at diagnosis was 11 years. There was consanguinity in 86%, malformative syndrome in 91%, and pancytopenia at diagnosis in 69%. Of 28 patients, 95% belonged to the FANCA group. Androgen treatment was given in 109 cases and genoidentical bone marrow transplantation (BMT) in 27 patients. The diagnosis of a myelodysplastic syndrome was retained in 4%, acute leukemia in 6%, and a solid tumor in 2%. The median overall survival time in all patients is 17 years 5 months; it is significantly better in patients having received allografts (p=0.01).
  
  
  CONCLUSIONS
  FA seems frequent in Tunisia, which is in part explained by the high consanguinity and endogamy in this country. Hematologic impairment is still the most frequent revealing circumstance of the disease. It is often severe or moderate and requires androgen treatment or bone marrow transplantation. BMT should be proposed to all patients with an HLA-compatible donor.
authors.affiliation: Service hématologie, hôpital Hédi Chaker, 3029 Sfax, Tunisie. sondes.mseddi@rns.tn
authors.forename: S
authors.initials: S
authors.lastname: Hadiji Mseddi
authors.forename: L
authors.initials: L
authors.lastname: Kammoun
authors.forename: H
authors.initials: H
authors.lastname: Bellaaj
authors.forename: Y
authors.initials: Y
authors.lastname: Ben Youssef
authors.forename: L
authors.initials: L
authors.lastname: Aissaoui
authors.forename: L
authors.initials: L
authors.lastname: Torjemane
authors.forename: F
authors.initials: F
authors.lastname: Telmoudi
authors.forename: A
authors.initials: A
authors.lastname: Amouri
authors.forename: H
authors.initials: H
authors.lastname: Elghezal
authors.forename: M
authors.initials: M
authors.lastname: Ouederni
authors.forename: Y
authors.initials: Y
authors.lastname: Ben Abdennebi
authors.forename: S
authors.initials: S
authors.lastname: Hammemi
authors.forename: T
authors.initials: T
authors.lastname: Ben Othmen
authors.forename: H
authors.initials: H
authors.lastname: Ben Abid
authors.forename: M
authors.initials: M
authors.lastname: Bejaoui
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
authors.forename: K
authors.initials: K
authors.lastname: Dellagi
authors.forename: M
authors.initials: M
authors.lastname: Frikha
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012042:Registries; D012189:Retrospective Studies; D014416:Tunisia; D055815:Young Adult