title: Beta-thalassaemia intermedia in Lebanon.
abstract: Approximately one third of thalassaemia patients on record in Lebanon have thalassaemia intermedia. We have analysed three factors in a panel of 73 patients with this less severe form of the disease in our population: mild beta-globin gene mutations, deletions in the alpha-globin gene and the presence of a polymorphism for the enzyme Xmn I in the Ggamma-promoter region. The results show that the most important contributing factor is the beta-genotype: 68% of patients have a mild beta+ mutation (IVSI-6, cd29, -88 or -87), while 26% of patients are positive for the Xmn I polymorphism associated with increased production of HbF, which showed strong linkage to particular mutations (IVSII-1, cd8 and cd30). However, the genotype phenotype correlation is difficult, because many patients were initially misdiagnosed as thalassaemia major and were started early on regular blood transfusions, which was stopped later on. This illustrates well the importance of an early accurate diagnosis of thalassaemia intermedia for appropriate clinical management.
authors.affiliation: Department of Biology, American University of Beirut, Lebanon.
authors.forename: M
authors.initials: M
authors.lastname: Qatanani
authors.forename: A
authors.initials: A
authors.lastname: Taher
authors.forename: S
authors.initials: S
authors.lastname: Koussa
authors.forename: R
authors.initials: R
authors.lastname: Naaman
authors.forename: C
authors.initials: C
authors.lastname: Fisher
authors.forename: M
authors.initials: M
authors.lastname: Rugless
authors.forename: J
authors.initials: J
authors.lastname: Old
authors.forename: L
authors.initials: L
authors.lastname: Zahed
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*
chemical_list: D005914:Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific