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.

Objectives: 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.