ISSN: 2320-5407 Int. J. Adv. Res. 4(10), 1194-1201 1194 Journal Homepage: - www.journalijar.com Article DOI: 10.21474/IJAR01/1910 DOI URL: http://dx.doi.org/10.21474/IJAR01/1910 RESEARCH ARTICLE MOLECULAR STUDY ON ΒETA-THALASSEMIA CHILDREN PATIENTS IN A PORTION OF THE ALGERIAN POPULATION (NORTHEAST ALGERIA) Belhadi. Kamilia 1 , Yahia Mouloud 1 , Gribaa Moez 2 , Bendaoud Fadhila 3 , Ben Charfeddine Ilhem 2 , Manoubi.Wiem 2 and Zidani Abla 1 . 1. Laboratory of Biotechnology of Bioactive Molecules and Cell Pathophysiology, University of Batna 2. Algeria. 2. Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. 3. Department of Pediatrics, University Hospital of Batna, Algeria …………………………………………………………………………………………………….... Manuscript Info Abstract ……………………. ……………………………………………………………… Manuscript History Received: 12 August 2016 Final Accepted: 16 September 2016 Published: October 2016 Key words:- Beta-thalassemia, Mutation, HBB Gene, Algeria. Objective:- This study was planned to determine the frequency of ß- thalassemia 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. Copy Right, IJAR, 2016,. All rights reserved. …………………………………………………………………………………………………….... Introduction:- Beta-thalassemia is a recessive monogenic disorder encountered worldwide with a higher prevalence among Mediterranean, Middle Eastern and Indian populations (Weatherall DJ, 1991). The disease is due to mutation in beta globin locus for which more than 200 alleles have been reported (Weatherall DJ and Clegg JB, 2002). Numerous disorders of the β-globin chain of hemoglobin lead to different disease phenotypes.(Thein SL ,2008; Weatherall DJ and Clegg JB ., 2001) Of these, β-thalassemia is a subset of the hemoglobinopathies characterized by a hereditary Corresponding Author:- Belhadi. Kamilia. Address: - Laboratory of Biotechnology of Bioactive Molecules and Cell Pathophysiology, University of Batna 2. Algeria.