Two new beta super(+)-thalassemia mutation [ beta -56 (G arrow right C); HBBc. -106 G arrow right C] and [ beta -83 (G arrow right A); HBBc. -133 G arrow right 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 beta super(+)-thalassemia mutations, that have not previously been reported in the Tunisian population [ beta -56 (G>C); HBBc. -106 G>C] and [ beta -83 (G>A); HBBc. -133 G>A]. Methods The whole beta -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 beta -globin gene at position -56 (G>C) and -83 (G>A). Linkage analysis using beta -globin gene cluster haplotypes showed that these two mutations were associated with Mediterranean beta -haplotype IX [-+-+++] and framework 2 (FW2) [CCTCT]. Conclusions The two newly described mutations lead to the beta super(+)-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. Am. J. Hum. Biol. 27:716-719, 2015.