title: Two new β+ -thalassemia mutation [β -56 (G → C); HBBc. -106 G → C] and [β -83 (G → A); HBBc. -133 G → A] described among the Tunisian population.
abstract: OBJECTIVE
  Different thalassemia mutations have been reported in various ethnic groups and geographical regions in Tunisia. In the present study, we have investigated two rare β(+) -thalassemia mutations, that have not previously been reported in the Tunisian population [β -56 (G > C); HBBc. -106 G > C] and [β -83 (G > A); HBBc. -133 G > A].
  
  
  METHODS
  The whole β-globin gene was directly sequenced, and haplotype analysis was conducted through a PCR/RFLP method.
  
  
  RESULTS
  Two new mutations were identified for the first time in Tunisia. They are located within the promoter region of β-globin gene at position -56 (G > C) and -83 (G > A). Linkage analysis using β-globin gene cluster haplotypes showed that these two mutations were associated with Mediterranean β-haplotype IX [- + - + + + +] and framework 2 (FW2) [CCTCT].
  
  
  CONCLUSIONS
  The two newly described mutations lead to the β(+) -thalassemia among Tunisian patients. The haplotype analysis and framework assignment have helped to identify the chromosomal background associated with these mutations, and determine their origin and spread.
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Kais
authors.initials: K
authors.lastname: Douzi
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Imen
authors.initials: I
authors.lastname: Moumni
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Amine
authors.initials: A
authors.lastname: Zorai
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Maha
authors.initials: M
authors.lastname: Ben Mustapha
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Ikbel Mosbahi
authors.initials: IM
authors.lastname: Ben Mansour
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Chaouachi
authors.initials: C
authors.lastname: Dorra
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
authors.forename: Abbes
authors.initials: A
authors.lastname: Salem
mesh_terms: D005260:Female; D006801:Humans; D009154:Mutation; D014416:Tunisia; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: D055544:beta-Globins