Molecular Study on Βeta-Thalassemia Children Patients in a Portion of the Algerian Population (Northeast Algeria)

Abstract

Objective:-This study was planned to determine the frequency of ßthalassemia mutations in Batna region (northeast Algeria). Materials and Methods:-19 blood samples of clinically thalassemic children patients were collected from department of pediatrics, university hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot ™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C>T) (HBB: c.118C>T), IVSI-110(G>A) (HBB: c.93-21G>A) and IVSI-1-2(T>G) (HBB: c.92+2T>G), as well as the hemoglobin S variant (HBB: c.20A>T) and we used direct DNA sequencing to detect the rare mutations of beta-globin gene. Results:-We have revealed the presence of four different β-globin gene mutations responsible for β-Thalassemia in region of Batna. According to our results; the nonsense mutation at codon 39 (C>T), is the most frequent mutation type in our province the same as other geographical regions of Algeria, followed by codon 54(-T), this molecular lesion was detected in a second Algerian family; the proband was homozygote, and the first association of Hb Knossos: codon 27 (G>T) allele with codon 39 (C>T) in Algerian population. Here we report also association of codon 39(C>T) with IVS-I-110 (G>A). Conclusion:-our preliminary results show the heterogeneity of the beta-thalassemia mutations in the region of Batna.