Hadiji Mseddi S, Kammoun L, Bellaaj H, Ben Youssef Y, Aissaoui L, Torjemane L, Telmoudi F, Amouri A, Elghezal H, Ouederni M, Ben Abdennebi Y, Hammemi S, Ben Othmen T, Ben Abid H, Bejaoui M, Abdelhak S, Hachicha M, Dellagi K, Frikha M
Service hématologie, hôpital Hédi Chaker, 3029 Sfax, Tunisie.
Arch Pediatr. 2012 May;19(5):467-75. doi: 10.1016/j.arcped.2012.02.017. Epub 2012 Apr 4.
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).
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).
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).
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.
